Resumo em Inglês:

Abstract Congenital hypothyroidism (CH) is a preventable cause of intellectual disability, and its early diagnosis through neonatal screening enables timely and effective treatment. This study analyzed the incidence and cumulative prevalence of CH in Paraguay between 2014 and 2023, using data from the National Neonatal Screening Program (PNDN). A total of 851,560 samples from newborns up to 28 days old were processed, collected from 1,132 sites across the country’s 18 health regions. Annual incidence ranged from 1:4,250 to 1:1,621, with a cumulative prevalence of 40.2 cases per 100,000 samples. Of the confirmed cases, 74% were female, with a female-to-male ratio of 2.8. The regions with the highest number of cases were Central, Asunción, and Alto Paraná, while Alto Paraguay and Ñeembucú had the highest cumulative prevalence rates. Despite annual fluctuations, incidence remained stable over time, suggesting a consolidation of the screening system. These findings reinforce the importance of neonatal screening as a key public health policy to prevent disabilities associated with late diagnosis and highlight the need to strengthen territorial equity in program coverage.

Resumo em Inglês:

Abstract Cystic fibrosis (CF) is a severe autosomal recessive genetic disorder caused by variants in the CFTR gene, affecting multiple organ systems, primarily the respiratory and digestive tracts. In Uruguay, a newborn screening (NBS) program for CF was established in 2010. This work presents a retrospective study of the results obtained since CF screening was incorporated to the program until March 2025. Data from IRT, PAP, sweat tests, and molecular analyses were evaluated.

Resumo em Inglês:

Abstract Background: Expanded newborn screening (NBS) enables early detection of treatable metabolic disorders, but population-level data from Central America are scarce. The aim of this work is to describe the frequency and spectrum of inherited metabolic disorders detected through an expanded NBS program in El Salvador between February 2020 and October 2025. Methods: A retrospective observational study analyzed 2,308 dried-blood-spot samples obtained primarily within the first week of life from hospitals across the country. Screening included ~70 conditions using tandem mass spectrometry followed by confirmatory targeted DNA analysis. Results: Thirty-two newborns were diagnosed with inherited metabolic or enzymatic disorders (detection rate: 1:72 screened newborns). The most frequent condition was glucose-6-phosphate dehydrogenase deficiency with the c202G>A; 376A>G mutation (n=13; 1:178), followed by maple syrup urine disease (n=6; 1:385) and several organic acidemias acidemias (n= 4; 1:577). The distribution reflects the admixed ancestry characteristic of Latin American populations. Conclusion: Expanded newborn screening is feasible in a Central American middle-income setting and reveals a clinically significant load of treatable disease. Nationwide implementation with structured follow-up care is warranted.

Resumo em Inglês:

Abstract Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features. Objective: To describe the dermatological characteristics of a cohort of patients with mucopolysaccharidosis from southwestern Colombia. Methods: We conducted a prospective cross-sectional study of 16 patients with a clinical, enzymatic, and/or molecular diagnosis of MPS, evaluated in Cali, Colombia (January-June 2024). Sociodemographic variables were collected, and cutaneous manifestations were categorized as facial, body, adnexal, or other. Results: The median age was 14.5 years (IQR 10-29); MPS IV-A was the most frequent subtype (n=11). Dermatologically, all patients presented with a flat nasal bridge, broad nose, and brachyonychia. Hypertrichophrydia, telangiectasias, and dermal melanocytosis were frequently observed in MPS IV-A. Conclusions: This cohort confirms consistent dermatological markers in MPS, particularly coarse facial features and universal brachyonychia, which may represent an underrecognized phenotypic sign. Early dermatologic evaluation can contribute to clinical suspicion and multidisciplinary management in vulnerable populations.

Resumo em Inglês:

Abstract Fructose is a significant source of dietary carbohydrates. There are four recognized inborn errors affecting the fructose metabolism pathway which typically present in second half of infancy. This case series aims to highlight the diverse clinical presentations of fructose metabolism disorders in Indian children. We report three patients with fructose metabolism defects, who presented with metabolic acidosis and hypoglycaemic seizures. All of them had preserved anthropometric parameters and two of the three children had hepatomegaly. All the three children had hypoglycaemia, two of them had transaminitis and one had cholestasis and deranged renal function tests. Genetic tests confirmed the diagnosis with two having mutations in the FBP1 and one in the ALDOB gene. All the three children had resolution of symptoms with dietary restriction and normal catch-up growth and neurodevelopment. We report two novel variants: c.403del in exon 4 of FBP1 and c.540G>A in intron 4 of ALDOB. Additionally, the p.Glu281Lys variant in exon 8 of FBP1, previously reported in Indian and Pakistani patients, may represent a regional hotspot associated with fructose-1,6-bisphosphatase deficiency. In conclusion, fructose metabolism defects consist of variable presentations. The timely identification and management through simple dietary modifications can lead to favourable outcomes. Molecular diagnosis enables better counselling, appropriate monitoring and prevention in affected families.

Resumo em Inglês:

Abstract This study presents a series of three pediatric clinical cases involving patients evaluated at the Hospital da Criança during 2024, with suspected inborn errors of metabolism (IEM) and neurogenetic conditions. The patients presented with complex clinical manifestations and underwent extensive diagnostic evaluation. All three patients exhibited metabolic disturbances and significant neurological findings on MRI assessment. This paper aims to highlight the challenges in diagnosing rare and complex conditions, the importance of a multidisciplinary approach, and the critical role of early intervention and continuous monitoring in patient management. Furthermore, this study contributes to the understanding of IEMs and neurogenetic disorders by emphasizing the necessity of a comprehensive clinical approach in pediatric care.

Resumo em Inglês:

Abstract Professional bodies are dedicated to advancing professions by establishing technical and ethical standards that maximize public benefit and support their members. In the field of human genetics and genomics, these are primarily independent membership organizations coordinating professional activities for diverse roles, including clinicians, researchers, and counselors. Since the establishment of the American Society for Human Genetics in 1948, these bodies have played a fundamental role in setting quality standards, facilitating education, and guiding public policy on complex issues like genetic privacy and precision medicine. Recognizing the need for global coordination, the International Federation of Human Genetics Societies (IFHGS) was formed in 1996 as an umbrella organization. It fosters communication and shared learning, most notably through the International Congress of Human Genetics (ICHG). This quinquennial meeting convenes experts to share research and healthcare perspectives; the upcoming 15th ICHG will be organized by RELAGH in Mexico in 2027. Strategic collaboration is now essential for these societies to act as authoritative sources against misinformation, amplify young leaders, and provide evidence-based guidance. This ensures public policy rests on sound science, guaranteeing that genomic advances ultimately benefit all humanity.