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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)

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.