Agenesia de la vesícula biliar: una serie de casos multicéntrica y revisión de la literatura / Agenesis of the gallbladder: A multicenter case series and review of the bibliography

La agenesia de la vesícula biliar es una entidad rara en pediatría con una evolución normalmente silente, y representa un desafío diagnóstico para el médico que enfrenta estos casos por primera vez. Algunos pacientes pueden, sin embargo, presentar síntomas que simulan otras patologías del árbol biliar, y muchos de ellos son operados ante esta sospecha. Sin embargo, el diagnóstico oportuno de esta entidad permite llevar a cabo un tratamiento médico que muchas veces es suficiente para resolver el problema del paciente. Si bien es una condición benigna, los pacientes suelen presentar otras malformaciones asociadas que son más graves en naturaleza y que deben investigarse activamente para poder derivarlos a los especialistas de manera oportuna. Presentamos nuestra experiencia en el diagnóstico y tratamiento de estos pacientes, así como una breve revisión de la literatura. Esperamos que sea de utilidad para el médico que encuentre un caso similar.

Gallbladder agenesis is a rare condition in pediatrics that is usually asymptomatic and represents a diagnostic challenge for physicians seeing these cases for the first time. Some patients may, however, present with symptoms that mimic other diseases of the bile ducts, and many of them undergo surgery due to such suspicion. Still, a timely diagnosis of gallbladder agenesis allows for medical treatment that is often sufficient to resolve the patient's problem. Although it is a benign condition, patients often present with other associated, more serious malformations and should be actively studied for a timely referral to other specialists. Here we describe our experience with the diagnosis and treatment of these patients and a brief review of the bibliography. We hope it will be helpful for physicians facing similar cases.

Estimation of the Incidence of Congenital Syphilis in Mexico Between 2019 and 2023.

Introduction Congenital Syphilis (CS) is considered the second leading cause of preventable death in developing countries. The last report of the incidence rate of CS was made in 2017. Objective The objective of the study was to estimate the incidence of CS between 2019-2023. Materials and methods This is a retrospective study for which data were obtained from the new cases of CS reported in the Epidemiological Bulletin for 2019-2023 and from the newborn population records reported in the National Institute of Statistics and Geography and the National Population Council. Results In Mexico, the incidence rate of CS is 3.20 per 10,000 births. An increment of CS cases was observed between 2019-2023, with a higher number of cases in 2022. Conclusion A democratization of detection and prompt management is needed to reduce transmission, particularly among the most vulnerable population.

Complete Thoracic Ectopia Cordis in Two Lambs.

Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.

Factors associated with signs of congenital syphilis in newborns.

OBJECTIVE: To analyze risk factors (maternal, obstetric and demographic) associated with congenital syphilis and the clinical characteristics of the newborns. METHOD: A cross-sectional study carried out in ten public maternity hospitals in Fortaleza, Ceará, Brazil that included cases of live births reported with congenital syphilis in 2015. RESULTS: 469 cases were analyzed; 199 (42.4 %) showed some sign or symptom suggestive of congenital syphilis; of these, 65 (32.7 %) were preterm, 87 (43.7 %) had low birth weight, 116 (58.3 %) had jaundice that required phototherapy, 13 (6.5 %) had hepatomegaly, 10 (5 %) had skin lesions, eight (4.0 %) had splenomegaly and one (0.5 %) had limb pseudoparalysis. Records of other clinical changes were identified in 36 (7.7 %) children. Children whose mothers were not treated or who received a drug other than penicillin and those whose mothers had a VDRL titer ≥ 1:16 at birth were 3.7 and 3.2 times more likely to be born with signs of congenital syphilis (p < 0.001- 95 % CI 2.41-5.58; p < 0.001 - 95 % CI 2.41-5.58) respectively. CONCLUSIONS: The findings of this study draw attention to the importance of improving the quality of prenatal care and the development of studies aimed at finding alternative drugs for the treatment of syphilis in pregnant women and the prevention of congenital syphilis.

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.

Tuberculosis preventive treatment in newborns.

OBJECTIVE: To describe the reported cases of newborns subjected to tuberculosis preventive treatment (TPT) in the state of Paraná, Brazil, and to evaluate the safety and effectiveness in preventing the progression of TB disease in this population. METHOD: Observational, descriptive case series, with secondary data. The characteristics of the participants were analyzed from the information systems of preventive treatment of TB (of Paraná), between 2009 and 2016. To evaluate which children had developed tuberculosis later or died, we used the data from the information systems of TB (in Brazil), and mortality (in Paraná), covering the years 2009 to 2018. RESULTS: A total of 24 children underwent TPT with the age at treatment onset ranging from 0 to 87 days (median: 23 days). In 95.8 %, the exposure occurred at home, and in 33.3 % of cases, the mother was the source of the infection. A total of 20.8 % of the children tested positive for tuberculosis test at 3 months of age, 83.3 % completed treatment, and 2 experienced adverse events (gastrointestinal issues). No children developed TB or died during the minimum of a 2-year evaluation period through the official databases. CONCLUSIONS: In this case series, the adherence to the plan was high, with few adverse events and 100 % protection against infection.

Prenatal diagnosis of critical congenital heart disease associated with lower postpartum depressive symptoms: a case-control study.

OBJECTIVE: When the expectant mother is faced with an unforeseen event during pregnancy, she may experience emotional fragility and depression. This study was carried out to test the association between the time of diagnosis of critical congenital heart disease (CCHD) and depressive symptoms in puerperal women. METHOD: A case-control study. All mothers answered a semi-structured questionnaire and the Edinburgh Postnatal Depression Scale (EPDS). Pearson's correlation and multiple linear regression analysis were used to determine factors associated with depression. RESULTS: 50 puerperal women, 23 cases and 27 controls. The proportion of puerperal depressive symptoms was 26.1 % among mothers of infants prenatally diagnosed with CCHD and 77.8 % among mothers of infants postnatally diagnosed (p = 0.001 [OR] 9.917; 95 % CI 2.703-36.379). Multiple linear regression analysis showed that the use of psychotropic drugs and time of diagnosis were significantly associated with puerperal depressive symptoms. CONCLUSION: Prenatal diagnosis of CCHD was associated with significantly lower levels of depressive symptoms.

Congenital Hypothyroidism and School Achievement in Adolescence: A Population-Based Sibling Control Study.

OBJECTIVE: To study school achievement in grade 9 of compulsory school in children with congenital hypothyroidism (CH), both those detected by the national screening program and those with a normal screening result and thus diagnosed later. STUDY DESIGN: Nationwide study of children in the Swedish Medical Birth Register (n = 1 547 927) from 1982 through 1997, linked to the neonatal screening CH cohort and the National School Register. Dried blood spot (DBS) samples are collected from all newborn infants, according to the neonatal screening program. Thyroid-stimulating hormone was used for CH screening. CH was defined as either having an abnormal screening result (DBS+) and treatment with levothyroxine (LT4+) or having a normal screening result but a CH diagnosis in the National Patient Register and treatment with LT4 (DBS-/ICD+/LT4+). Regression models were used to study school performance, which as measured as grade point sum and national test results. Sibling analysis also was performed to account for unmeasured familial factors. RESULTS: There were 448 children who were DBS+/LT4+ and 475 children who were DBS-/ICD+/LT4+. Children with CH had lower grade point sum, adjusted ß = - 6.34 (95% CI -11.7 to -1.01) and adjusted ß = -10.3 (95% CI -15.5 to -5.20) for those with abnormal (DBS+/LT4+) and normal screening (DBS-/ICD+/LT4+) results, respectively. CH also was associated with lower result on the national tests, especially in mathematics. These associations remained in the sibling analyses. CONCLUSIONS: Youth with CH had slightly lower school achievements compared with those without CH and compared with their siblings. CH children with a normal screening result, and thus diagnosed later, presented the lowest results on grade point sum and national tests.

Influence of ß2-adrenergic selective agonist formoterol on the motor unit of a mouse model of a congenital myasthenic syndrome with complete VAChT deletion.

Congenital Myasthenic Syndromes (CMS) are a set of genetic diseases that affect the neuromuscular transmission causing muscular weakness. The standard pharmacological treatment aims at ameliorating the myasthenic symptom by acetylcholinesterase inhibitors. Most patients respond well in the short and medium term, however, over time the beneficial effects rapidly fade, and the efficacy of the treatment diminishes. Increasing evidence shows that ß2-adrenergic agonists can be a suitable choice for the treatment of neuromuscular disorders, including CMS, as they promote beneficial effects in the neuromuscular system. The exact mechanism on which they rely is not completely understood, although patients and animal models respond well to the treatment, especially over extended periods. Here, we report the use of the long-lasting specific ß2-adrenergic agonist formoterol in a myasthenic mouse model (mnVAChT-KD), featuring deletion of VAChT (Vesicular Acetylcholine Transporter) specifically in the α-motoneurons. Our findings demonstrate that formoterol treatment (300 µg/kg/day; sc) for 30 days increased the neuromuscular junction area, induced skeletal muscle hypertrophy and altered fibre type composition in myasthenic mice. Interestingly, ß2-adrenergic agonists have shown efficacy even in the absence of ACh (acetylcholine). Our data provide important evidence supporting the potential of ß2-adrenergic agonists in treating neuromuscular disorders of pre-synaptic origin and characterized by disruptions in nerve-muscle communication, through a direct and beneficial action within the motor unit.

Mature congenital intraventricular intracranial teratoma: A case report and literature review.

Background: Intracranial teratomas represent a rare subset of neoplasms characterized by tissues derived from multiple germ layers within the cranial cavity. These tumors, originating from primordial germ cells, exhibit diverse clinical presentations and histopathological features. While predominantly located along the midline axis, including the suprasellar cistern and pineal region, they can also manifest in less common areas such as ventricles and hypothalamic regions. Histopathologically, they are classified as mature, immature, or malignant based on the degree of tissue differentiation. Case Description: Male patient with prenatal care for congenital hydrocephalus born at 38 weeks gestation with a bulging fontanelle. Postnatal imaging revealed an intraventricular lesion, later diagnosed through magnetic resonance imaging as a mature teratoma invading the lateral ventricle and extending to the hypothalamus. Surgical resection achieved total macroscopic removal followed by successful postoperative ventriculoperitoneal shunting due to evolving hydrocephalus. Conclusion: Teratomas are uncommon tumors, and prognosis depends on tumor size and location, especially considering the rarity of mature teratomas. Complete surgical resection is paramount for treatment, leading to a better prognosis and quicker recovery. In cases where complete removal is challenging, adjuvant therapies and cerebrospinal fluid diversion may be required to enhance therapeutic outcomes and ensure successful resection.

Missed opportunities for prevention of congenital syphilis.

BACKGROUND: The WHO presented the initiative: "Global elimination of congenital syphilis (CS): rationale and strategies for action". It establishes that CS is a preventable disease that can be eliminated. OBJECTIVE: To estimate the proportion of missed opportunities for prevention (MOP) of (CS). MATERIAL AND METHODS: Cross-sectional study. We studied women with children with confirmed diagnosis of CS (NOM-039-SSA2-2002) in the Mexican Social Security Institute in Jalisco from 01/01/2016 to 08/01/2022. The clinical records of the mother, the newborn and the epidemiological study (ES) were reviewed. Each case was classified into one of the MOP categories. RESULTS: 52 cases were reported: 46.2 % (n = 24) were ruled out, 34.6 % (n = 18) confirmed, 15.4 % (n = 8) unknown and 3.8 % (n = 2) probable cases. The HIV test was performed in 61.1 % (n = 11) and syphilis in 72.2 % (n = 13) of the mothers. The MOP in 27.8 % (n = 5) was inadequate treatment or omission of maternal treatment despite a timely diagnosis of syphilis. Treatment was inadequate in 63.6 % (n = 7) of the women who received it. CONCLUSION: The classification of MOP identifies gaps in CS prevention and can guide stakeholders, policy makers and public health prevention programs to reduce the incidence of CS.

ANTECEDENTES: La Organización Mundial de la Salud estableció que la sífilis congénita es una enfermedad prevenible que puede eliminarse. OBJETIVO: Estimar la proporción de oportunidades perdidas en la prevención (OPP) de la sífilis congénita. MATERIAL Y MÉTODOS: Estudio transversal descriptivo. Se eligieron mujeres en cuyos hijos recién nacidos se identificó sífilis congénita entre 2016 y 2022. Se revisaron los expedientes clínicos de la madre, el recién nacido y el estudio epidemiológico. Cada caso se clasificó en una de las categorías de las OPP. RESULTADOS: Se notificaron 52 casos: 46.2 % (n = 24) fue descartado, 34.6 % (n = 18) confirmado, 15.4 % (n = 8) desconocido y 3.8 % (n = 2) probable. Las pruebas para identificar infección por VIH y sífilis se realizaron en 61.1 % (n = 11) y 72.2 % de las madres (n = 13). La OPP en 27.8 % (n = 5) consistió en el tratamiento inadecuado u omisión de tratamiento materno a pesar de diagnóstico oportuno de la sífilis. De quienes recibieron tratamiento, en 63.6 % fue inadecuado (n = 7). CONCLUSIÓN: La clasificación de OPP de sífilis congénita permite identificar brechas en la prevención y dirigir intervenciones de salud pública hacia las principales causas para reducir la incidencia.

Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico / Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

Malformaciones congénitas diagnosticadas en el servicio de medicina materno fetal de la Maternidad Concepción Palacios / Congenital malformations diagnosed in the maternal fetal medicine service of the Maternidad Concepción Palacios

Objetivo: Identificar y clasificar las diferentes anomalías del desarrollo diagnosticadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios entre enero y diciembre de 2023. Métodos: Estudio retrospectivo, descriptivo, transversal que incluyó la evaluación de los 4225 reportes de ultrasonido obstétrico realizados en 2023. Se excluyeron los estudios sin diagnóstico morfológico. Las variables evaluadas fueron características clínicas de las gestantes, prevalencia según tipo de anomalía del desarrollo y según el aparato o sistema afectado. Resultados: Se diagnosticaron anomalías del desarrollo en 282 pacientes, para una frecuencia de 6,7 %. Las anomalías fueron únicas en 187 casos (66,3 %) y múltiples en 95 pacientes (33,7 %). El total de malformaciones fue 360 (8,5 %). El mínimo de lesiones detectadas fue una y el máximo fue tres. El sistema afectado con mayor frecuencia fue el sistema nervioso central, con 104 casos (28,9 %); le siguen, en orden de frecuencia, los marcadores aislados, vistos en 92 pacientes (25,6 %) y las anomalías cardiovasculares, en 49 fetos (13,6 %). Conclusión: La frecuencia de malformaciones congénitas diagnosticadas en el año 2023 fue de 6,7 % de las ecografías realizadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios; en las dos terceras partes de los casos fueron únicas y el tercio restante fueron múltiples. En orden de frecuencia, los sistemas afectados fueron sistema nervioso central, marcadores aislados de aneuploidías y anomalías cardiovasculares(AU)

Objective: To identify and classify the different developmental anomalies diagnosed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital between January and December 2023. Methods: Retrospective, descriptive, cross-sectional study that included the evaluation of the 4225 obstetric ultrasound reports performed in 2023. Studies without morphological diagnosis were excluded. The variables evaluated were clinical characteristics of the pregnant women, prevalence according to type of developmental anomaly and according to the affected apparatus or system. Results: Developmental abnormalities were diagnosed in 282 patients, with a frequency of 6.7%. The anomalies were single in 187 cases (66.3%) and multiple in 95 patients (33.7%). The total number of malformations was 360 (8.5%). The minimum number of injuries detected was one and the maximum was three. The most frequently affected system was the central nervous system, with 104 cases (28.9%); This is followed by isolated markers, seen in 92 patients (25.6%), and cardiovascular anomalies, in 49 fetuses (13.6%). Conclusion: The frequency of congenital malformations diagnosed in 2023 was 6.7% of the ultrasound scans performed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital; Two-thirds of the cases were singles and the remaining third were multiples. In order of frequency, the affected systems were central nervous system, isolated markers of aneuploidies, and cardiac anomalies(AU)

Congenital anomalies in pregnancies with overt and pregestational type 2 diabetes: a gray portrayal from a cohort in Brazil.

OBJECTIVE: To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes. METHODS: In this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records. Congenital anomalies were classified by the 10th revised International Classification of Diseases, Q chapter, enhanced by the EUROCAT registry classification, and categorized by type and gravity. We used multiple Poisson regression with robust estimates to estimate risks. RESULTS: Among 648 participants, we excluded 19, and 62 were lost to follow-up; therefore, we included 567 participants. Overt diabetes arose in 191 participants (33.7%, 95% CI 30.0% - 38.0%). Less than 20% of the participants supplemented folate. Congenital anomalies occurred in 78 neonates (13.8%, CI 11.0 - 16.9%), 73 babies (93.6%) presented major anomalies, and 20 (10.5%) cases occurred in participants with overt diabetes. Cardiac anomalies were the most frequent (43 isolated and 12 combined). Pre-eclampsia was associated with an increased risk in the analyses including all women (adjusted RR 1.87 (95% CI 1.23-2.85), p = 0.003), but not in analyses including only women with an HbA1c measured up to the 14th gestational age. HbA1c, either measured at any time in pregnancy (adjusted RR 1.21 (95% CI 1.10-1.33), p < 0.001) or up to the first 14 weeks (adjusted RR 1.22, 95% CI 1.10-1.35, p < 0.001) was the only sustained risk factor. Risk factors such as maternal age, obesity, diabetes diagnosis, or use of antidiabetic medications were not associated with congenital anomalies. CONCLUSION: We found a high frequency of congenital anomalies associated with poor maternal glycemic control and revealed an almost universal lack of preconception care. An urgent call to action is mandatory for the reversal of this gray scenario.

Conservative Approach to Type III Ulnar Club Hand: Case Report.

Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

Congenital diaphragmatic hernia: relationship between defect size and outcome. Experience in a reference centre.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a therapeutic challenge. The surgical classification recommended by the Congenital Diaphragmatic Hernia study group (CDHSG), based on the size of the defect, is used for staging in reference centres. Larger defects are associated with poorer outcomes. Our aim was to describe and compare the morbidity at hospital discharge of newborns who underwent surgical correction of CDH at the Juan P. Garrahan, according to the surgical staging of the defect proposed by the CDHSG. MATERIAL AND METHODS: The study included patients with CDH admitted to the Juan P. Garrahan Hospital between 2012 and 2020, and we analysed the distribution, morbidity and mortality associated with the size of the defect. We carried out a descriptive analysis, calculating measures of central tendency and dispersion, and bivariate and multivariate analyses. RESULTS: A total of 230 patients with CDH were admitted and 158 underwent surgery. We found that defect sizes C and D sizes were associated with an increased risk of chronic pulmonary disease (CPD) (OR, 5.3; 95% CI, 2.2-13.4; P<.0000), need of extracorporeal membrane oxygenation (OR 3.9; 95% CI, 1.3-12.8; P<.005) and chylothorax (OR, 2.1; 95% CI, 0.8-6.4; P<.10]. The multivariate analysis revealed that a large defect size (C-D) was independently and significantly associated with CPD (OR 4.19; 95% CI, 1.76-9.95). CONCLUSION: Staging the defect according to de CDHSG classification during surgery allows the application of uniform management criteria and the prediction of patient outcomes and complications during the hospital stay.

Moderate altitude as a risk factor for isolated congenital malformations. Results from a case-control multicenter-multiregional study.

BACKGROUND: Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations. OBJECTIVES: To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors. METHODS: The study consisted of a case-control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10-1433 m) and moderate altitudes (1511-2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation. RESULTS: Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes. CONCLUSIONS: Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil.

A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV.