Boletín médico del Hospital Infantil de México最新文献

Background: Myosin 1g (Myo1g) has recently been identified as a potential diagnostic biomarker in childhood acute lymphocytic leukemia (ALL).

Case report: We describe the case of a 1-year-old Mexican female patient. Although initially studied for hepatomegaly, an infectious or genetic etiology was excluded. Liver biopsy showed infiltration by neoplastic B-cell precursors (BCPs), and bone marrow (BM) aspirate showed 14.5% of BCPs. In a joint session of the oncology, hematology, and pathology departments, low-risk (LR) BCP-ALL of hepatic origin with aberrant myeloid markers was diagnosed. Although treatment was initiated, the patient presented early with BM relapse. Modest overexpression of Myo1g was observed from the onset. However, at the end of the steroid window, expression increased significantly and remained elevated during this first relapse to BM. The parents refused hematopoietic stem cell transplantation, but she continued chemotherapy. After a second BM relapse at 5 years of age, the phenotype switched to myeloid. Her parents then opted for palliative care, and the patient died two months later at home.

Conclusions: This case shows the potential use of Myo1g in clinical practice as a high-risk indicator. Myo1g monitoring may reveal a high risk and relapse trend, even when typical parameter values are not altered: Myo1g could be used to classify patients from low to high risk from diagnosis, allowing patients to promptly receive the best treatment and potentially modifying prognosis and survival.

Background: The efficiency of blood products (BP) requisition in elective non-cardiac surgeries is inherently complex. Moreover, it is aggravated in the pediatric population. This study aimed to identify the factors associated with using less than the requested BP during the transoperative period in pediatric patients undergoing elective non-cardiac surgery.

Methods: We conducted a cross-sectional comparative study including 320 patients undergoing elective non-cardiac surgery for whom BPs were requested. Low requirements were considered when less than 50% of the requested amount or no BPs were used, and high requirements when more than the requested amount was used. The Mann-Whitney's U test was applied for comparative analysis, and multiple logistic regression was used to adjust for factors associated with lower requirements.

Results: The median age of the patients was 3 years. From 320 patients, 68.1% (n = 218) received less than the requested amount of BP, while only 1.25% (n = 4) received more than the requested amount of BP. Factors associated with transfusion of less than the requested BPs were prolonged clotting time (odds ratio (OR) = 2.66) and anemia (OR = 0.43).

Conclusions: Factors associated with lower than requested BP transfusion were prolonged clotting time and anemia.

Background: The use of pancreatic prostheses in children with acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) has evolved. The main established indication is the treatment of persistent abdominal pain. This study aimed to evaluate the efficacy of pancreatic stenting for refractory abdominal pain in pediatric patients with ARP and CP.

Methods: We conducted a retrospective case series study. We included patients under 16 years of age diagnosed with ARP and CP in the study. Endoscopic retrograde cholangiopancreatography (ERCP) was performed with the insertion of one and later two pancreatic stents. We evaluated abdominal symptoms before and after treatment, number of changes, duration of treatment, and complications with follow-up at 24 months and after withdrawal.

Results: Nine patients with ARP and CP were included in the study: six with undetermined etiology and three with pancreas divisum. The mean age was 12.4 years. Prosthesis placement relieved abdominal pain in 100% of cases, with 3.2 replacement sessions every 6.2 months for 27.4 months, and mild complications (15.7%). One patient experienced pain on removal of the prosthesis and required bypass surgery.

Conclusion: Pancreatic stent placement in patients with refractory abdominal pain with ARP and CP proved to be effective and safe, providing medium-term symptom relief and minimal complications.

Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment.

Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome.

Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.

Background: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children.

Case report: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis.

Conclusions: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.

Background: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru.

Methods: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs.

Results: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay.

Conclusions: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

Background: Vascular malformations (VaM) are a heterogeneous group of disorders resulting from the dysmorphogenesis of blood vessels. Although correct classification is relevant to providing adequate treatment according to evidence-based medicine, diagnostic terminology may be misused or need clarification.

Methods: We conducted a retrospective study to measure agreement and concordance between referral and final confirmed diagnoses of 435 pediatric patients with VaM newly referred to the multidisciplinary Vascular Anomalies Clinic (VAC) using Fleiss kappa (κ) concordance analysis.

Results: We found fair concordance between referral and confirmed diagnoses of VaM (κ 0.306, p < 0.001). Lymphatic malformations (LM) and VaM associated with other anomalies showed moderate diagnostic concordance (κ 0.593, p < 0.001 and κ 0.469, p < 0.001, respectively).

Conclusions: Continuing medical education strategies are required to improve physician knowledge and diagnostic accuracy in patients with VaM.

Background: In Mexico, the prevalence of exclusive breastfeeding for 6 months is low (28.6%); in the state of Sonora, it is only 15%. Effective strategies are needed to promote it. The aim of this study was to evaluate the effectiveness of printed infographics designed to promote breastfeeding in mothers from Sonora.

Methods: We prospectively studied lactation regimes from birth. Intention to breastfeed, general characteristics of the mother-infant dyad, and telephone number were registered. Participants received educational training in the hospital; those assigned to the intervention group (IG) also received up to five infographic materials (designed and evaluated previously) in different perinatal periods, while those in the control group (CG) did not. At two months postpartum, the infant feeding practice and reasons for introducing formula were collected by phone. Data were analyzed with the χ² test.

Results: Of 1705 women enrolled, 57% were missed during follow-up. Although 99% of participants planned to breastfeed, 92% of IG did so, compared to 78% of CG (95% Confidence interval [CI]: 7.04, 19.98; p < 0.0001). Mothers in the IG used more formula than those in the CG (6 vs. 21%; 95% CI: -20.54, -8.0; p < 0.0001), arguing insufficient milk production. The delivery of three infographics (one in prepartum and two in the hospital-training), or five infographics in different periods, promoted breastfeeding in 95% of participants.

Conclusions: The distribution of printed infographics and initial training promoted breastfeeding, although not its exclusivity.

Background: Postinfectious bronchiolitis obliterans is a rare lung disease; there are limited reports in South America.

Case report: We report 10 patients with this disease diagnosed at the Instituto Nacional de Salud del Niño-Breña (Lima-Peru). The median age at diagnosis was 19 months and all patients had a history of severe acute respiratory infection. The most frequent symptoms were cough, respiratory distress, wheezing, and hypoxemia. The mosaic attenuation pattern was the most frequent on the tomography. All the patients had positive serology for adenovirus. The treatment received was methylprednisolone pulses, azithromycin, hydroxychloroquine, and inhaled corticosteroids. No patient died during the follow-up.

Conclusions: In previously healthy children with a history of severe acute respiratory infection and persistent bronchial obstructive symptoms, the diagnosis of postinfectious bronchiolitis obliterans should be considered. This is the first report in Peru with a therapeutic regimen adapted to our institution.