Boletín médico del Hospital Infantil de México最新文献

At the balance between human health and disease (from the very first moments to the end of life), the mitochondrion is central players because of its metabolic role in adenosine triphosphate synthesis, cell signaling, immune response, and other processes of clinical interest. On the other hand, impairments at the optimal mitochondria function have important consequences in complex diseases, such as heart disease, diabetes, and cancer, among others. These mitochondrial impairments can occur at any age damaging multiple body systems, which have prompted the mitochondrial medicine development. Since mitochondrial diseases have great variability in their clinical manifestations, early studies were centered on mitochondriopathies, however nowadays, this focus has broadened to understand and encompass the mitochondrial role of in diseases development of both pediatric and adult age. The mitochondria potential to improve diagnostic, prognostic, and treatment response strategies has been revealed by experimental approaches using proteomics, genomics, and metabolomics to identify clinical biomarkers showing disease development. Thus, the perspective of mitochondria-based medicine recognizes the importance of generating scientific evidence related to mitochondria and their role in pathological conditions from a comprehensive approach.

Background: Type 1 diabetes mellitus (T1DM) prevalence has increased in prevalence worldwide. T1DM is characterized by negative changes in glycemic control (e.g., increased risk of hypoglycemia) and moreover negatively impacts the quality of life and muscle function of the pediatric population with the disease.

Method: seven participants of the Hospital Dr. Exequiel González Cortés (age 11 [10-13] years, 4 male and 3 female) participated in a 12-week, twice-weekly concurrent training program plus continuous glucose monitoring (CGM). The participants underwent the following assessments: anthropometric measurements (weight, height, and BMI), glycemic control (Glycated hemoglobin [HbA1c], hypoglycemic events diaries, time in range, and glycemic diaries), muscle function (standing broad jump, prone plank, 10 maximum repetitions [10RM] squat, and chest press), quality of life (Kidscreen-27 questionnaire), and aerobic capacity (20 m shuttle run test). Statistical analysis used the Shapiro-Wilk test (normality), one-way Analysis of variance (differences between months), and paired t-test (pre-post differences).

Results: The HbA1c increased (p = 0.047). Muscle function improved in standing broad jump (p = 0.03), prone plank (p = 0.01), 10RM squat (p = 0.03), and 10RM chest press (p = 0.01). Quality of life increased in physical function (p = 0.03) and total score (p = 0.01). The running distance in the 20 m shuttle run test increased (p = 0.01).

Conclusion: The concurrent training program plus CGM is effective in improving quality of life, muscle function, and running capacity in the pediatric population with T1DM.

Background: Hodgkin lymphoma (HL) and non-HL (NHL) are the third and fourth most common malignancies during childhood, with limited information available from Latin America.

Method: We retrospectively studied patients with HL and NHL from a single academic center in Northeast Mexico between 2002 and 2020. Data included treatment regimens, staging, and survival outcomes. Survival was determined by Kaplan-Meier analysis, and features of lymphomas were compared using the X² test.

Results: The study included 75 patients, 36 (48%) with HL and 39 (52%) with NHL. Males predominated (70%); the median age was 9 years. Stages III and IV were detected in 59% and median follow-up reached 50 months. Relapse occurred in 16 (21%) patients, 9 (12%) in the HL group and 7 (9%) in the NHL group. Thirteen (17.3%) patients underwent transplantation, 12 (85%) in the HL group; 11 are alive. Most deaths, 10/11 (91%), occurred in NHL patients. Five-year overall survival rates were 96% (95% confidence interval [CI] 95.6-97) for HL and 75% (95% CI 74.9-76.3) for NHL (p = 0.004). Five-year disease-free survival was 70% for HL (95% CI 69-72.5) and 69% (95% CI 67.7-71) for NHL (p = 0.672).

Conclusion: Pediatric-age HL and NHL had similar frequency in the study population; most patients presented with advanced disease at diagnosis. A high success rate was documented for HL, while NHL outcomes were suboptimal.

Background: Approximately 25% of children with asthma experience uncontrolled symptoms, leading to frequent exacerbations, emergency visits, systemic corticosteroid use, unnecessary antibiotic prescription, and increased mortality risk. Poor treatment adherence is a critical factor hindering asthma control. This study aimed to implement and evaluate therapeutic adherence in children with persistent asthma through a technological solution based on short message service (SMS) reminders sent to patients' mobile phones and receiving their responses to optimize disease management and follow-up.

Method: We conducted a quasi-experimental pilot study with 28 children to develop the software RoxySMS for remotely monitoring therapeutic adherence in a tertiary hospital. Participants included caregivers of children aged 5-14 years with persistent asthma requiring daily inhaled corticosteroids alone or with long-acting beta-agonists. Caregivers needed a postpaid mobile phone for SMS communication. Outcome evaluators and data analysts were blinded to the intervention.

Results: The software achieved an average response percentage of 80.8%, with individual responses ranging from 37.9% to 98.9%. On average, 50% of messages were answered immediately (5-87%), 24% within 15-60 min (2-55%), and 26% within 1-24 h (2-84%).

Conclusions: RoxySMS successfully automated message delivery, validating it as a viable and cost-effective tool for monitoring adherence in chronic conditions, such as asthma, particularly in resource-limited settings.

Background: Spontaneous retropharyngeal emphysema (SRE) is a scarce condition in the pediatric population.

Clinical case: An 11-year-old boy presented with respiratory distress and cervical pain after a severe cough attack. A cervical examination revealed a marked subcutaneous emphysema. A polymerase chain reaction (PCR) for respiratory viruses was positive for influenza A/H3. A blood culture was obtained and was negative. A chest and a cervical X-ray showed pneumomediastinum and SRE. A computed tomography scan showed a pulmonary condensation on the left lower lobe and ectopic air at the level of the cardioesophageal junction. An upper gastrointestinal series demonstrated the absence of contrast leakage. The patient was managed conservatively with good clinical evolution and resolution of symptoms. Two weeks after the episode, a chest and a cervical X-ray showed almost complete resolution of the SRE and the pneumomediastinum.

Conclusions: The exceptional presentation of spontaneous pneumomediastinum in a pediatric patient without asthma underscores the importance of considering SRE in the differential diagnosis of cervical and thoracic ectopic air in the pediatric population.

Type 1 diabetes is a chronic immune-mediated disease that leads to the loss of beta cells in the pancreas, clinically characterized by polydipsia, polyphagia, and weight loss. The disease is most prevalent in the first and second decades of life, with a consistent annual increase. The dependence on insulin therapy indefinitely is well known. Although advances in this area, such as new continuous glucose monitoring devices with continuous subcutaneous insulin infusion, have improved patient quality of life, they do not affect disease pathogenesis and do not consistently reduce long-term complications. In addition to requiring lifestyle sacrifices and, in many cases, failing to meet therapeutic target points, it increases the risk of hypoglycemia, an acute and potentially fatal complication. Following decades of research and advances in therapeutic technologies, approaches have been developed based on diverse mechanisms in the disease's pathogenesis. This review focuses on new immunotherapy approaches for type 1 diabetes, including cell-targeted therapies, cytokines, and cell transplants to preserve beta-cell function.

Background: Neonatal sepsis is a serious condition that increases neonatal mortality. The objective of this study was to describe the microorganisms causing neonatal sepsis and their resistance patterns in a neonatal intensive care unit (NICU).

Methods: A cross-sectional cohort study was conducted. Microorganisms identified in blood or cerebrospinal fluid cultures from newborns (NBs) admitted to the Nuevo Hospital Civil de Guadalajara Dr. Juan I. Menchaca were studied. Microorganism identification and susceptibility testing were performed using VITEK^® 2. The cutoff points for classifying resistance were according to the Clinical and Laboratory Standards Institute. Infections were classified as early-onset sepsis (EOS) or late-onset sepsis (LOS).

Results: A total of 73 NBs with EOS and 261 with LOS were identified; the incidence rate of EOS was 7.1 events/1000 live births and of LOS was 25.5 events/1000 live births. In both infections, the risk was significantly higher in premature NBs and/or NBs with birth weight < 2500 g. The predominant etiology in all infections was Enterobacterales (63.3%). In EOS, resistance to first-line antibiotics for Enterobacterales was ampicillin 46.6% (27/58) and gentamicin 24.1% (14/58), while in LOS, it was ampicillin 63.7% (186/292) and gentamicin 28.1% (82/292). The second most frequently identified bacteria were Staphylococcus spp. 13.6% (n = 75) with oxacillin resistance of 78.7% (59/75). No ampicillin-resistant Streptococcus spp. or Enterococcus spp. was identified.

Conclusions: The incidence of EOS and LOS in a Mexican NICU was 7.1 and 25.5 events/1000 live births, and the main etiologies were Enterobacterales and Staphylococcus spp.

Background: The bite of spiders of the Loxosceles genus causes loxoscelism. It can occur in cutaneous-necrotic, cutaneous-visceral, or predominantly edematous cutaneous loxoscelism forms. This last form is a rare variant characterized by edema without necrosis with a frequency of 5% of all cases of loxoscelism.

Clinical case: A 6-year-old girl presented edema in the eyelid that progressively increased and spread to the entire face. The relative reported that this event occurred after a spider bite. Physical examination revealed a bite-type lesion on the lower left eyelid, generalized edema throughout the face, and dysphonia. The tests showed elevated creatinine and bilirubin; the rest were normal. Initially, she received corticosteroids, antihistamines, and adrenaline. Due to the persistence of edema, we administrated anti-loxosceles serum and continued with corticosteroids and antibiotics. After 48 hours, edema decreased, and on the seventh day, it was almost entirely resolved, so the patient was discharged without complications.

Conclusions: Predominantly edematous cutaneous loxoscelism is a rare variant. It can mimic other diseases like cellulitis or anaphylaxis in the emergency room. Supportive treatment is essential to avoid complications in children.

Introducción: La discinesia ciliar primaria es un trastorno genético heterogéneo autosómico recesivo caracterizado por disfunción de la motilidad ciliar. Se han reportado variantes de significado incierto en pacientes con fenotipo compatible con discinesia ciliar primaria.

Caso clínico: Varón de 15 años con historia de infecciones respiratorias y cuadros obstructivos bronquiales recurrentes desde el periodo neonatal. Los estudios radiológicos mostraron atelectasias, alteración de los senos paranasales y bronquiectasias. La ultraestructura ciliar mostró ausencia del par de microtúbulos centrales, de los brazos externos e internos de dineína, y desorganización microtubular. El panel genético reportó una variante genética de significado incierto en el gen DNAI1 (NM_012144.4): c.1489+5G>A. Fue tratado con antibioticoterapia, nebulizaciones con solución salina hipertónica y fisioterapia respiratoria, con buena evolución en el seguimiento.

Conclusiones: Es importante el reporte de una variante de significado incierto en el gen DNAI1 en un paciente con fenotipo clínico y hallazgos de clase 1 en la microscopía electrónica ciliar compatibles con discinesia ciliar primaria, con el fin de aportar a la reclasificación de variantes.

Background: Primary ciliary dyskinesia is an autosomal recessive heterogeneous genetic disorder characterized by dysfunction of ciliary motility. Variants of uncertain significance have been reported in patients with a phenotype compatible with primary ciliary dyskinesia.

Clinical case: A 15-year-old male adolescent with a history of respiratory infections and recurrent bronchial obstructive symptoms since the neonatal period. Radiological studies showed atelectasis, paranasal sinus alterations, and bronchiectasis. Ciliary ultrastructure showed the absence of the central microtubule pair, the external and internal dynein arms, and microtubular disorganization. The genetic panel reported a genetic variant of uncertain significance in the DNAI1 gene (NM_012144.4): c.1489+5G>A. He was treated with antibiotic therapy, nebulizations with hypertonic saline solution, and respiratory physiotherapy with good evolution during follow-up.

Conclusions: It is important to report a variant of uncertain significance in the DNAI1 gene in a patient with a clinical phenotype and class 1 findings in ciliary electron microscopy compatible with primary ciliary dyskinesia, to contribute to the reclassification of variants.

Background: Orotracheal intubation can cause complications such as stridor and airway obstruction, which favors weaning failure. The objective of this study was to assess the usefulness of airway ultrasound prior to extubation to predict stridor and extubation failure.

Method: Cross-sectional descriptive study, from March 2023 to June 2024. A total of 50 patients were studied, admitted to the pediatric emergency service of the Children's Hospital of the State of Sonora, under mechanical ventilation ≥ 24 hours and in whom the first extubation attempt. An ultrasound of the airway was performed, calculating the peritube free space and the width of the air column before extubation, and the total number of patients who presented post-extubation stridor and extubation failure were identified.

Results: The mean peritube free space in patients who presented stridor was 3.2 mm (0.3-6.2), with a statistically significant difference (p = 0.012) compared to patients who did not present stridor. The mean width of the air column in patients who presented stridor was 1.21 mm (0.16-4.78 mm), but it did not show a statistically significant difference (p = 0.153) compared to patients who did not present stridor. There were no statistically significant differences in both measurements for the outcome of extubation failure.

Conclusions: Airway ultrasound seems to have a good correlation with the risk of post-extubation stridor.