Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.

Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.

-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report.

Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes and , other genes such as have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity.

Stem-cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico.

Introduction: For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving.

Objective: To review our experience of 11 years transplanting children with PID in Mexico.

Methods: Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes.

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects.

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

Introduction: Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear.

Objective: We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19.

[Attitude of the medical personnel of a pediatrics department towards patient death].

Introduction: Tertiary care hospitals' physicians require high emotional competence, since they are faced with the demands of terminally ill patients and their families.

Objective: to assess the attitude of physicians of a pediatrics department towards patient death.

Method: Pediatrics staff and resident physicians anonymously answered the Attitudes Towards Death (ATD) questionnaire.

Alteraciones puberales en adolescentes con leucemia en fase de vigilancia.

Objective: To evaluate which factors are associated with alterations in pubertal development in pediatric patients with leukemia in the surveillance phase.

Method: A case-control study was carried out, including patients aged 8-14 years with diagnosis of acute lymphoblastic leukemia under surveillance. Demographic data were collected, age at diagnosis, type of leukemia, risk of leukemia, duration and type of treatment received, time of surveillance phase; and pubertal development was assessed by Tanner stage, bone age, pelvic ultrasound for women, and LH levels.

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature.

Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette-Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early.

Zoledronate as effective treatment for minimal trauma fractures in a child with STAT3 deficiency and osteonecrosis of the hip.

Signal transducer and activator of transcription 3 (STAT3) deficiency is a primary immunodeficiency characterized by eczema, complicated recurrent infections, elevated serum immunoglobulin E (IgE), osteopenia, and minimal trauma fractures. Zoledronic acid (ZA) is a long-acting bisphosphonate that has been successfully used in children with secondary osteoporosis and osteogenesis imperfecta. We describe the case of a 7-year-old male with STAT3 deficiency and minimal trauma fractures, who also developed osteonecrosis of the hip.

[Left ventricular adaptive response after surgery of aortic valve replacement for severe valvular stenosis].

Background: Myocardial hypertrophy is a compensatory mechanism in patients with severe aortic stenosis. The left ventricle fits the systolic pressure through a hypertrophic process with increased wall thickness. The effects of elevated ventricular afterload reduce ventricular myocardial elasticity and decrease coronary flow with increased myocardial work, oxygen consumption, and mortality.

[Clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients].

Background: Brain tumors are the second most common malignancy in childhood and they are also the most common solid tumors in children and the most frequent cause of morbidity and mortality associated with cancer in this age.

Objective: To determine the clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients.

Material And Methods: An observational, retrospective, cross-sectional comparative study in which records the clinical manifestations of 51 pediatric patients diagnosed with intracranial tumor, according with its location, supra- or infratentorial.

[Factors associated with advanced thyroid cancer in pediatric patients in a high specialty medical unit in Northeast Mexico].

Introduction: Thyroid cancer represents 2% of all childhood malignances. Its incidence rises 1.1% per year.

[Zoledronic acid (zoledronate) in children with osteogenesis imperfecta].

Introduction: Zoledronic acid or zo/edronate is a potent bisphosphonate that recently has been used in children with osteoporosis and osteogenesis imperfecta (01), so it could be an option in the treatment of children with this terrible disease that virtually condemns them to a life of pain and prostration. The aim of this study was to evaluate the clinical and biochemical conditions of pediatric patients with 01 before and after treatment with zo /edronate.

Results: We included 14 patients, median age six years (6 months to 14 years), eight (57.

[Pulmonary complications in pediatric patients with primary immunodeficiency].

Introduction: Primary immunodeficiencies comprise diseases that impair the immune system. Clinical manifestations are characterized by recurrent respiratory infections, which may be complicated by bronchiectasis, peribronchial thickening, abscesses, bullae, and pulmonary fibrosis. The aim of this study was to determine pulmonary complications in pediatric primary immunodeficiency by type.

[Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico].

Introduction: The mutations found in the IDUA gene depend on racial and genetic background. The aim of this paper is to determine the mutations of the IDUA gene in patients with MPS I in the Northeast of Mexico and the relationship with phenotype.

Results: Molecular studies were performed in seven patients from Nuevo Leon with MPS I.

[Clinical and immunological characteristics in pediatric patients with coccidioidomycosis in northeastern Mexico].

Background: Coccidioidomycosis is a systemic fungal disease caused by Coccidioides spp. Patients with phagocytic, cellular, or humoral immunodeficiencies exhibit immunodeficiencies that confer increased susceptibility to fungal infections. In Mexico there is an underreporting of this disease and no studies currently describe the immune status of these patients in an endemic area.

[Rituximab in pediatric patients with systemic lupus erythematosus].

Unlabelled: Systemic lupus erythematosus (SLE) is an autoimmune disease that is more severe in pediatric population than in adults. Biological therapy with anti-CD20 (rituximab) in children with SLE was begun to use only a few years ago, in patients that do not respond to conventional therapy. The aim of this study is to determine the clinical response in pediatric patients with SLE that received treatment with rituximab in a third level hospital.

[Mucopolysaccharidosis I: management and follow up of three patients].

Mucopolysaccharidosis type I or mucopolisacaridosis type I is a rare genetic disease, with a severe and fast multiorganic damage profile and fatal prognosis in the early years of age. It belongs to the lysosomal storage diseases (LSD) group pathologies. As an LSD, mucopolisacaridosis type I is due to the lack of the α-L-iduronidase enzyme.

[Wiskott Aldrich syndrome associated to vasculitis: a therapeutic challenge].

Wiskott Aldrich syndrome (WAS) is an X-linked primary immunodeficiency, associated with WASP gene mutation that causes severe immunological abnormalities and alterations in platelet function. A seven year old male patient with WASP, began with acute abdominal pain, fever and knee swelling. The diagnosis of septic arthritis was made, and he was treated with broad-spectrum antibiotics and human gammaglobulin.