Search

Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.

With the advancement of knowledge in relation to the physiopathogenesis of atopic dermatitis (AD), several new therapeutic forms have been developed. There are also new guidelines for self-care. On the other hand, there is still an underdiagnosis of AD in Mexico. Thus, the need was seen to develop a national guide, with a broad base among the different medical groups that care for patients with AD. The Atopic Dermatitis Guidelines for Mexico (GUIDAMEX) was developed with the ADAPTE methodology, with the endorsement and participation of ten national medical societies, from physicians in Primary Healthcare to allergists and dermatologists. Throughout the manuscript, key clinical questions are answered that lead to recommendations and suggestions for the diagnosis of AD (including differential diagnosis with immunodeficiency syndromes), the recognition of comorbidities and complications, non-pharmacological treatment including therapeutic education, treatment of flares and maintenance therapy. The latter encompasses general measures to avoid triggering factors, first-line treatment focussed on repair of the skin barrier, second-line treatment (topical proactive therapy), and third-line phototherapy or systemic treatment, including dupilumab and JAK inhibitors.

Background: The World Health Organization and the American Academy of Pediatrics suggest disclose the HIV diagnosis to children. However, the disclosure of HIV/AIDS diagnosis to children and adolescents, it is not a consolidated practice in Colombia, often this occurs because caregivers do not have an adequate methodology to carry out this process., Aim: We present the efficiency components validation of "Mi dragon Dormido" history in the educational process and revelation ofAIDS diagnosis to boys and girls., Method: By means of purposive non-probability sampling, semi-structured interviews were conducted with 40 children, with an equal number of children who were seropositive (n = 20) and seronegative (n = 20) for HIV/ AIDS. A qualitative study with the approach of grounded theory and systematic design was conducted. We conducted the qualitative study through the NVivo software, with the codification type being Tree Nodes., Results: The qualitative data provided necessary approximations to improve the content and design of the tool and showed that it reflects the reality of children and allows them to identify frequent fears and questions regarding to chronic health condition of HIV., Conclusions: These results provide important information to be considered in the process of diagnosis revelation and its management by health personnel.

Introducción: El neuroblastoma es el tumor maligno más frecuente en el primer año de vida y el tumor sólido extracraneal más frecuente en la infancia. Solo el 1% de los casos debuta con metástasis cutáneas, caracterizadas por nódulos azulados subcutáneos. Se presenta el caso de un lactante con un neuroblastoma suprarrenal izquierdo en el que las metástasis cutáneas constituían el síntoma principal. Caso clínico: Lactante de sexo femenino, de 2 meses de edad, sin antecedentes de importancia para el padecimiento actual. Acudió por presentar dermatosis diseminada en la región cervical y occipital, el abdomen, el muslo derecho y el pie izquierdo. La dermatosis se caracteriza por nódulos subcutáneos, sólidos, bien delimitados, < 1 cm, de color azulado, que iniciaron su aparición a los 7 días de vida en el hipocondrio derecho, con crecimiento progresivo, asintomáticos. Se realizó biopsia de un nódulo y se reportó la presencia de células pequeñas con núcleo denso hipercromático, escaso citoplasma y dispuestas en nidos. La inmunohistoquímica fue positiva para cromogranina y enolasa neuronal específica. Los hallazgos fueron compatibles con metástasis cutánea de neuroblastoma. Se solicitó valoración y abordaje por oncología pediátrica, que reportó un estadio 4 de la enfermedad y se inició el tratamiento correspondiente. Conclusiones: Los pediatras y los dermatólogos pediatras son los primeros en atender a niños con alguna lesión cutánea. Se deben tener en cuenta las metástasis cutáneas, que pueden aparecer antes o simultáneamente al diagnóstico de un tumor primario. Por lo tanto, se debe realizar un correcto abordaje con el fin de mejorar el pronóstico y la calidad de vida del paciente.

Background and Objective: Most of the studies available in the literature related to the treatment of femoroacetabular impingement (FAA) with surgical hip dislocation (CLD) come from Europe and North America. This study describes the short-term results of the LQC technique for treating PFA in a cohort of Colombian patients., Patients and Methods: We retrospectively analysed 42 cases of PFA treated with LQC from 2006 to 2018. The same orthopaedic surgeon performed all surgeries. Clinical outcome was assessed using the Merle d'Aubigné scores, while radiological assessment was performed using the Tönnis score., Results: Fifteen women and 25 men were included in the study, with a mean age of 36.3 years. Two patients had bilateral symptomatic involvement. Of the 42 cases, there were 13 cam type, 11 pincer type and 18 mixed. Preoperatively, 31 hips were classified as poor and moderate, and 11 as good according to the Merle d'Aubigné scale. The preoperative Tönnis radiological classification showed grade 0 in half of the cases. The mean duration of follow-up was 24 months (12 to 37). The final postoperative Merle d'Aubigné scores classified 7 cases as poor or moderate, and 35 as good to excellent (p<0.05). The postoperative Tönnis score showed no significant variation. As complications, one patient had heterotopic ossification, and three had trochanteric nonunion requiring refixation., Conclusion: Our results suggest that the LQC technique for the treatment of patients with PFA shows satisfactory short-term results with a low complication rate. To our knowledge, this is the first report of results of the surgical procedure for hip dislocation in our region., (Copyright © 2021 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.)

Objetive: Analyze the perception of adolescent pregnancy in the Department of North Santander., Method: A descriptive cross-sectional study was conducted with 406 adolescent mothers between 10 and 19 years old in 6 sub-regions of the department. We used a structured survey and the Statistical Package for the Social Sciences (SPSS; Version No. 23) was employed for the data tabulation., Results: 69 % of adolescents believe that unplanned pregnancy is associated with the lack of sexual education. 66 % say that it is preventable with the use of contraceptive methods. It is known that unwanted pregnancies are the main cause of school dropouts for 62 % of adolescents., Discussion: Ensuring greater access to sex education and facilitating the free and easy access to contraception can reduce the problem of teen pregnancy.

Bronchial asthma is the most prevalent chronic disease in children. Every year an important number of asthmatic children is hospitalized for asthma crisis. The magnitude of this problem in Chile is unknown., Objective: To evaluated the asthma hospitalization rate in 5-15 year-old children and evaluate their evolution., Patients and Method: We calculate the asthma hospitalization rate in children based on data from the National Hospitalization Discharge Registry from the Statistics and Health Information Department of the Ministry of Health (DEIS) and the National Institute of Statistics (INE). We evaluate the evolution of these rates from 2001 to 2014., Results: We observed a significant increase in the asthma hospitalization rates in children from 3,8 for 10.000 inhabitants in 2001 to 7,8 for 10.000 inhabitants in 2014. The average age was 8,5 years ± 2,7. Male gender was predominant (57,58%) with a mean length of stay of 3 days (range 1-12)., Conclusions: The actual asthma hospitalization rate in Chile is 7,8 for 10.000 inhabitants for children 5 to 15 years old, with a double increase in this rate during the 14 year period analyzed.

Introduction: Iron depleted deposits are the first link in the chain of events leading to iron deficiency which is the most prevalent nutritional shortage and main cause of anemia worldwide. This situation can be prevented through food fortification., Objective: To compare the efficacy of amino acid chelate iron with ferrous sulfate as fortifier of a dietary complement in preschoolers with iron deficiency., Materials and Methods: This study was a blinded clinical trial with randomized groups. We analyzed 56 preschoolers with iron deficiency (ferritin < 24 ng/ml) that received 13 g of milk with 12.5 mg of iron, either amino acid chelate or in the ferrous sulfate form. After two months, hemoglobin, hematocrit and serum ferritin concentrations were measured., Results: In the ferrous sulfate group, ferritin concentration increased from 18.8 ng/ml to 24.1 ng/ml, while the variation was of 18.4 ng/ml to 29.7 ng/ml in the amino acid chelate group, with statistically differences in both cases. Serum ferritin was different between groups, being higher in iron amino acid chelate group (p=0.022). Hemoglobin and hematocrit levels did not change after the intervention. Adverse reactions in the ferrous sulfate group were 35.7%, compared with 42.9% in the iron amino acid chelate group; 5 children had respiratory tract infection, without statistical differences., Conclusions: Both compounds increased serum ferritin concentration, with a higher increase in those who were given milk with iron amino acid chelate. There were no differences in the adverse reactions and infections incidences between the groups.

Introduction: Leiomyosarcomas are mesenchymal malignant tumours that appear in smooth muscle cells. Their most frequent locations are the uterus and gastrointestinal tract. Their occurrence in head and neck is considered exceptional. We present a patient with a posterior neck region leiomyosarcoma who had received radiation for a nasopharyngeal carcinoma 20 years earlier. The incidence ratio of these tumours in radiated patients (therefore considered radiation-induced) ranges from 0,035 to 0,2%. Radiation-induced sarcomas are difficult to diagnose due to the induration and fibrosis in the radiated area and the non-specific symptoms that they present. Their prognosis is very poor., (Copyright © 2011 Elsevier España, S.L. All rights reserved.)

Mucormycosis is an opportunistic fungal infection caused by fungi of the Mucorales order. It has a low incidence and is a potentially lethal infection which generally affects patients who are immunocompromised due to systemic disease. We report 7 cases of rhinocerebral mucormycosis in a retrospective study of 8 years (2000-2008) in haematological patients. An early diagnosis is essential, and therefore there must be a high level of clinical suspicion in patients with predisposing factors. Certainty diagnosis requires fungal cultures or biopsies of the affected areas which prove an invasion of the tissues by the characteristic hyphae. The key to treatment is early and aggressive surgical treatment, together with high intravenous doses of amphotericin B. Despite this, prognosis is poor and mortality is about 70-80%., (2009 Elsevier España, S.L. All rights reserved.)