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Introduction: Obesity is associated with nonalcoholic fatty liver disease (NAFLD) in children. Our aim was to analyze the association of dietary and sociodemographic factors with NAFLD in obese children and adolescents. Materials and methods: Thirty-three obese patients from 6-16 years of age were included in the present analytic cross-sectional study. Obesity was diagnosed with a body mass index z-score > 2 SD. NAFLD was estimated by liver ultrasound, serum amino transferases, and elastography. The sociodemographic variables were evaluated using validated questionnaires. Diet was estimated through two 24-h recall dietary surveys focused on the quantity of food energy, simple sugars, polyunsaturated fatty acids (PUFAs), and antioxidants. Results: Hepatic steatosis was identified by abdominal ultrasound in 13 patients (39.4%) and the serum alanine aminotransferase level was above the upper reference value in 54.2%. A higher educational level in both parents, greater monthly food expenditure, and a higher socioeconomic level were associated with NAFLD. Overall, simple sugar and saturated fat consumption was above the recommended daily intake, whereas vitamin E and PUFA consumption was below those parameters. Conclusions: NAFLD was identified in one-third of the cases. There was an association between NAFLD and sociodemographic variables. Both groups had an increased intake of simple sugars and a reduced intake of PUFAs. The selective occurrence of NAFLD could be related to a genetic predisposition that has been demonstrated in a Mexican population. Resumen: Introducción y objetivo: La obesidad se asocia con el hígado graso no alcohólico (HGNA) en niños. El objetivo fue explorar la asociación de factores dietéticos y sociodemográficos con el HGNA en niños y adolescentes obesos. Material y métodos: Treinta y tres pacientes obesos de 6-16 años fueron incluidos en este estudio transversal analítico. El diagnóstico de obesidad se realizó con puntuación z del índice de masa corporal > 2 DE. El HGNA se estimó con ultrasonido hepático, aminotransferasas séricas y elastografía. Las variables sociodemográficas se evaluaron con cuestionarios validados. La dieta se estimó mediante dos encuestas dietéticas por recordatorio de 24 horas enfocadas a la cantidad de energía, azúcares simples, ácidos grasos poliinsaturados (PUFAS) y antioxidantes. Resultados: En 13 pacientes (39.4%) se identificó esteatosis hepática por ultrasonido abdominal; 54.2% tuvieron una concentración sérica de alanina aminotransferasa por arriba de la referencia. El nivel educativo superior de ambos padres, el mayor gasto familiar mensual en alimentos y el mayor nivel socioeconómico se asociaron con HGNA. En el grupo total, el consumo de azúcares simples y grasas saturadas fue excesivo y el consumo de vitamina E y PUFAS estuvo por debajo del parámetro. Conclusiones: Se identificó HGNA en un tercio de los casos. Se demostró asociación entre HGNA y variables sociodemográficas. Ambos grupos tuvieron una ingesta aumentada de azúcares simples y disminuida de PUFAs. La ocurrencia selectiva de HGNA se podría relacionar a predisposición genética demostrada en población mexicana.

Resumen: Introducción y objetivo: La obesidad se asocia con el hígado graso no alcohólico (HGNA) en niños. El objetivo fue explorar la asociación de factores dietéticos y sociodemográficos con el HGNA en niños y adolescentes obesos. Material y métodos: Treinta y tres pacientes obesos entre seis a 16 años fueron incluidos en este estudio transversal analítico. El diagnóstico de obesidad se realizó con puntuación z del índice de masa corporal > 2 DE. El HGNA se estimó con ultrasonido hepático, aminotransferasas séricas y elastografía. Las variables sociodemográficas se evaluaron con cuestionarios validados. La dieta se estimó mediante dos encuestas dietéticas por recordatorio de 24 horas enfocadas a la cantidad de energía, azúcares simples, ácidos grasos poliinsaturados (PUFAs) y antioxidantes. Resultados: En 13 pacientes (39.4%), se identificó esteatosis hepática por ultrasonido abdominal; 54.2% tuvieron una concentración sérica de alanina aminotransferasa por arriba de la referencia. El nivel educativo superior de ambos padres, el mayor gasto familiar mensual en alimentos y el mayor nivel socioeconómico se asociaron con HGNA. En el grupo total, el consumo de azúcares simples y grasas saturadas fue excesivo y el consumo de vitamina E y PUFAS estuvo por debajo del parámetro. Conclusiones: Se identificó HGNA en un tercio de los casos. Se demostró asociación entre HGNA y variables sociodemográficas. Ambos grupos tuvieron una ingesta aumentada de azúcares simples y disminuida de PUFAs. La ocurrencia selectiva de HGNA se podría relacionar con predisposición genética demostrada en población mexicana. Abstract: Introduction: Obesity is associated with nonalcoholic fatty liver disease (NAFLD) in children. Our aim was to analyze the association of dietary and sociodemographic factors with NAFLD in obese children and adolescents. Materials and methods: Thirty-three obese patients from 6-16 years of age were included in the present analytic cross-sectional study. Obesity was diagnosed with a body mass index z-score > 2 SD. NAFLD was estimated by liver ultrasound, serum amino transferases, and elastography. The sociodemographic variables were evaluated using validated questionnaires. Diet was estimated through two 24-hour recall dietary surveys focused on the quantity of food energy, simple sugars, polyunsaturated fatty acids (PUFAs), and antioxidants. Results: Hepatic steatosis was identified by abdominal ultrasound in 13 patients (39.4%) and the serum alanine aminotransferase level was above the upper reference value in 54.2%. A higher educational level in both parents, greater monthly food expenditure, and a higher socioeconomic level were associated with NAFLD. Overall, simple sugar and saturated fat consumption was above the recommended daily intake, whereas vitamin E and PUFA consumption was below those parameters. Conclusions: NAFLD was identified in one-third of the cases. There was an association between NAFLD and sociodemographic variables. Both groups had an increased intake of simple sugars and a reduced intake of PUFAs. The selective occurrence of NAFLD could be related to a genetic predisposition that has been demonstrated in a Mexican population.

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity., (© 2020 Wiley Periodicals, Inc.)

Introduction: Müllerian duct anomalies are rare with less than 200 cases published in the literature. Recently, the implementation of the Yang-Monti principle for the creation of the neovagina has been used in 10 previous published cases. Here, we report the first case of cervicovaginal agenesis treated with the modified Yang-Monti technique in two steps in México., Presentation of Case: A 14-year-old female presented to the pediatric consult with a history of primary amenorrhea and a chronic-cyclic pelvic pain. She had normal external genitalia and secondary sexual characteristics, with a small vaginal pouch. Pelvic ultrasonography and magnetic resonance showed the absence of cervix and proximal vagina. The surgical approach was carried out in two steps. In the first, a neovagina was created with the modified Yang-Monti technique. On a second step one year after, the neovaginal dome was anastomosed with the uterus in a diamond shape, using Gore-tex ® in the cervicovaginal anastomosis, and a Foley catheter to prevent stenosis. After an 18-month follow-up, no complications have been observed. She has been taking Drospirenone and Ethinyl Estradiol with regular menstrual cycles., Discussion: The surgical treatment of cervicovaginal agenesis has evolved. The advantages of the modified Yang-Monti technique lie in the possible diminution of the tension on the vascular pedicle, and the gained length of the neovagina. To perform this procedure in two steps, likely diminishes the risk of neovaginal ischemia and leakage of the anastomosis., Conclusion: The two-steps modified Yang-Monti technique represents a safe alternative for the management of cervicovaginal agenesis., (Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

The aim of our study was to determine the frequency and type of associated congenital anomalies in patients with isolated gastroschisis born at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, México), and to explore its possible association with the included outcome variables. One hundred-eight cases with isolated gastroschisis were reviewed from 2009 to 2014. The occurrence of intestinal and extraintestinal associated anomalies (either secondary or primary) was prospectively assessed. The type of gastroschisis, length of hospital stay (LOS), and in-hospital mortality were outcome variables for statistical analysis. Of infants with gastroschisis, 52 (48.1%) had one or more associated anomalies (AA), with increased odds in males (OR = 2.3, 95%CI: 1.1-5.0). AA classified, as secondary and primary were present in 34.3 and 5.6% of patients, respectively. Of secondary AA, 25.9% were intestinal anomalies, and 17.6% were extraintestinal. Primary AA were congenital heart disease (n = 3), meningomyelocele, and hydrocephaly and amniotic band sequence in one instance, respectively. Multivariate logistic regression showed that secondary AA (both intestinal and extraintestinal) were associated with complex gastroschisis, prolonged LOS, and in-hospital death, whereas primary AA were not related to a worse outcome. Our results highlight the pathogenic importance of properly investigating and categorizing the presence of others secondary or primary AA when diagnosis of gastroschisis is made., (© 2015 Wiley Periodicals, Inc.)

The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report two sisters with YVS who also had papillo-macular atrophic chorioretinopathy with "salt-and-pepper" appearance that could not be attributed to environmental or metabolic causes. Our best hypothesis is that the ocular findings in our two patients are part of the phenotypic manifestations of YVS. We suggest that an extensive ophthalmologic examination should be carried out in all children with YVS in order to define the frequency and nature of the ocular findings in these patients., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe two female siblings with SWS born from consanguineous Gypsy parents. For a further delineation of SWS, we report hypothyroidism and ectopic thyroid as part of its phenotypic spectrum. Molecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. We emphasize that these features represent dysautonomic manifestations of SWS, and are probably related to pharyngoesophageal dyskinesia due to abnormal autonomic control of the anterior rami of cervical roots C1-C5.

Oculoauriculofrontonasal syndrome was the subset of patients with oculo-auriculo-vertebral spectrum and frontonasal malformation. Radiographic evidence of tracheal duplication was documented in a male infant with oculoauriculofrontonasal syndrome. Although previously unreported in oculoauriculofrontonasal syndrome, airway anomalies in our case can be attributed to the oculo-auriculo-vertebral component of the oculoauriculofrontonasal syndrome.