Successful pharmaco-invasive approach using a lower alteplase dose and VA-ECMO support in high-risk pulmonary embolism: case report.

Despite the elevated mortality rates associated with high-risk pulmonary embolism (PE), this condition remains understudied. Data regarding the effectiveness and safety of invasive therapies such as venoarterial extracorporeal membrane oxygenation (VA-ECMO) in this patient population remains controversial. Here, we present the case of a 61-year-old male with high-risk PE associated with refractory cardiac arrest and cardiogenic shock who underwent a combination of extracorporeal cardiopulmonary resuscitation with VA-ECMO and pharmaco-invasive therapy (mechanical thrombi fragmentation plus lower alteplase dose), resulting in successful pulmonary reperfusion. After a prolonged in-hospital stay, the patient was discharged in stable condition.

Use of hepatic support with MARS in a patient with SARS-CoV-2 Pneumonia, in treatment with ECMO and CRRT therapies: Case Report.

Extracorporeal Membrane Oxygenation (ECMO) therapy had an important role in the treatment of severe COVID-19 pneumonia, where invasive mechanical ventilation was not enough to provide correct oxygenation to various organ systems. However, there are other extracorporeal technologies, such as the Molecular Absorbent Recirculation System (MARS) and Continuous Renal Replacement Therapy (CRRT), that provide temporal support for any critical patient. The following case describes a 60-year-old man with severe Acute Respiratory Distress Syndrome (ARDS), who needed ECMO therapy. During the critical days of hospitalization, CRRT was used, but a sudden hyperbilirubinemia ensued. Consequently, MARS therapy was initiated; followed by an improvement of bilirubin levels. Additional studies are needed to establish the possible benefits of the combination of MARS therapy and ECMO; however, we detected that concomitantly, there was a decrease in other laboratory parameters such as acute phase reactants. Even though, no change in clinical course was observed, as shown in some studies.

Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

INTRODUCTION: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler-Scheie, and Scheie syndrome spectrum. CASE PRESENTATION: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12/c.1205G>A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. CONCLUSION: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient.

Critical CHD screening programme: a 3-year multicentre experience in Mexico.

INTRODUCTION: CHDs are the most common type of birth defect. One in four newborns with a heart defect has a critical CHD. In Mexico, there is a lack of data available to determine its prevalence. Pulse oximetry screening programmes have been implemented worldwide, reporting opportunity areas in algorithm interpretation and data management. Our study aims to share preliminary results of a 3-year experience of a multicentre pulse oximetry screening programme that addresses critical challenges. MATERIALS AND METHODS: This retrospective study examined the reports of newborns screened from February 2016 to July 2019 from five hospitals. Two algorithms -the New Jersey and the American Academy of Pediatrics- were implemented over consecutive periods. The algorithms' impact was assessed through the calculation of the false-positive rate in an eligible population. RESULTS: A total of 8960 newborns were eligible for the study; from it, 32.27% were screened under the New Jersey and 67.72% under the American Academy of Pediatrics algorithm - false-positive rate: 1% (CI 95: ± 0.36%) and 0.71% (CI 95: ± 0.21%), respectively. Seventy-nine newborns were referred, six were diagnosed with critical CHD, and six with CHD. The critical CHD estimated prevalence was 6.69:10,000 newborns (CI 95: ± 5.36). Our results showed that the algorithm was not related to the observable false-positive rate reduction. DISCUSSION: Other factors may play a role in decreasing the false-positive rate. Our experience implementing this programme was that a systematic screening process led to more confident results, newborn's report interpretation, and follow-up.

Early detection of and intervention for two newborns with critical congenital heart disease using a specialized device as part of a screening system.

Screening for critical congenital heart disease is a clinical method used for their early detection using pulse oximetry technology. This, followed by a diagnostic confirmatory protocol, allows timely therapeutic interventions that improve the newborn's outcome. According to Mexican birth statistics, approximately 18,000-21,000 neonates are born with a form of congenital heart disease each year, of which 25% are estimated to be critical congenital heart disease. We report two cases with an early critical congenital heart disease detection and intervention through an innovative critical congenital heart disease screening program implemented in two Mexican hospitals. They integrated a new automated pulse oximetry data analysis method and a comprehensive follow-up system (Cárdi-k®). Both cases were confirmed by echocardiogram, which served for an intervention in the first week of life, and the patients were discharged in good clinical condition. In addition, to the routine physical assessments, the critical congenital heart disease screening program (which includes echocardiogram for presumptive positive cases) should be implemented in a timely manner.

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

BACKGROUND Hereditary spastic paraplegia (HSP or SPG) consists of a heterogeneous group of disorders, clinically divided into pure and complex forms. The former is characterized by neurological impairment limited to lower-extremity spasticity. The latter presents additional symptoms such as seizures, psychomotor impairment, cataract, deafness, and peripheral neuropathy. The genetic structure of HSP is diverse, with more than 72 loci and 55 genes identified so far. The most common type is SPG4, accounting for 40% of cases. This case report describes 2 siblings presenting SPG4, one presumptive and one confirmed with a homozygous SPAST variant. CASE REPORT Two siblings born to third-degree consanguineous and healthy parents presented a SPG4 complex phenotype characterized by progressive psychomotor deterioration, mixed seizure patterns, corneal opacity, dysostotic bones, limb spasticity with extensor plantar responses, and axial hypotonia. After ruling out most inborn errors of metabolism in one of the patients, the complexity of the case derived from exome sequencing. The identification of a homozygous variant in the SPAST gene established a diagnosis for SPG4. The phenotype-genotype did not correlate to classical manifestations, most likely due to the variant's zygosity. Moreover, 34 patient's relatives were identified with SPG4 clinical manifestations or asymptomatic with the same genetic variant in heterozygous state. CONCLUSIONS We described visual loss and seizures for SPG4 complex phenotype associated with a homozygous variant in the SPAST gene. This diagnosis will lead clinicians to consider it as a differential diagnosis providing adequate genetic counseling.

Venoarterial extracorporeal membrane oxygenation in heart surgery post-operative pediatric patients: A retrospective study at Christus Muguerza Hospital, Monterrey, Mexico.

OBJECTIVES: Extracorporeal membrane oxygenation is a life support procedure developed to offer cardiorespiratory support when conventional therapies have failed. The purpose of this study is to describe the findings during the first years using venoarterial extracorporeal membrane oxygenation in pediatric patients after cardiovascular surgery at Christus Muguerza High Specialty Hospital in Monterrey, Mexico. METHODS: This is a retrospective, observational, and descriptive study. The files of congenital heart surgery post-operative pediatric patients, who were treated with venoarterial extracorporeal membrane oxygenation from January 2013 to December 2015, were reviewed. RESULTS: A total of 11 patients were reviewed, of which 7 (63.8%) were neonates and 4 (36.7%) were in pediatric age. The most common diagnoses were transposition of great vessels, pulmonary stenosis, and tetralogy of Fallot. Survival rate was 54.5% and average life span was 6.3 days; the main complications were sepsis (36.3%), acute renal failure (36.3%), and severe cerebral hemorrhage (9.1%). The main causes of death were multi-organ dysfunction syndrome (27.3%) and cerebral hemorrhage (18.2%). CONCLUSION: The mortality rates found are very similar to those found in a meta-analysis report published in 2013 and the main complication and causes of death are also very similar to the majority of extracorporeal membrane oxygenation reports for these kinds of patients. Although the results are encouraging, early sepsis detection, prevention of cerebral hemorrhage, and renal function monitoring must be improved.

Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.

Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. We present the first known Latin American patient diagnosed with hawkinsinuria, and the tenth reported patient in the literature. We aim to establish clinical practice guidelines for patients with hawkinsinuria. The patient's plasma tyrosine level was 21.5 mg/dL, which is several times higher than the reference value. Mutation analysis indicated heterozygosity for V212M and A33T variants in HPD. In the case of altered tyrosine levels found during newborn screening, we propose exclusive breastmilk feeding supplemented with ascorbic acid. Amino acid quantification is useful for monitoring treatment response. If tyrosinemia persists, protein intake must be decreased via a low-tyrosine diet. Molecular studies can be used to confirm a patient's disease etiology. Further reports are required to elucidate new pathogenic and phenotypic variations to enable the development of an appropriate therapeutic approach.