Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts' recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries.

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.

Background: Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the first step in planning cost-effective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic differences.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton.

Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

Introduction: Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis.

Goal: To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office.

[Complex congenital clubfoot: a case report].

The Ponseti method is the ideal treatment for the management of congenital clubfoot of any etiology; it corrects the deformity in more than 90% of cases. However, a small percent of idiopathic clubfoot cases, known as complex clubfoot, do not respond properly to this treatment and thus a modification of the original technique described by Doctor Ponseti for manipulating the forefoot is required. We present herein the case of a patient with complex congenital clubfoot treated during her first year of life with the modified Ponseti method with good results.

Use of a soft tissue expander before surgical treatment of clubfoot in children and adolescents.

Primary closure of the skin after surgical correction of severe clubfoot is difficult, sometimes impossible. The authors describe a surgical technique with the use of a soft tissue expander prior to surgical treatment on clubfoot in children and adolescents. They operated on 13 feet (10 patients) with rigid clubfoot, with ages ranging from 3 to 16 years (average 10 years).

[Postischemic dysfunction and persistent ischemia in the early postinfarction period. Evaluation by echo-dobutamine-atropine test].

Aim: To study post-ischemic dysfunction and persistent ischemia in early post-infarction, by means of Echo-dobutamine-Atropine stress test (ECHO-DOB). Methods. We studied 138 patients (pts) aged < or = 75 yrs (mean 59.

Relationship between HDL-cholesterol and apolipoprotein A1 and the severity of coronary artery disease.

Introduction: We investigated whether apolipoprotein A1 (ApoA1) could better identify patients with severe vessel damage than HDL-cholesterol in a population with recent acute myocardial infarction (AMI).

Methods: One hundred and forty-one male patients (mean age: 54.3 +/- 7.

[Identification of ischemic and/or viable myocardium in early post-infarction period using echocardiographic imaging technique. Comparison of 2 tests: echo-dipyridamole and echo-dobutamine].

Aim Of The Study: To compare two stress tests: Dipyridamole-echocardiography (ECHO-DIP) and Dobutamine-echocardiography (ECHO-DOB) with angiographic data (still "gold standard") in early postinfarction period in order to identify ischemic and/or viable myocardium (considering the echocardiographic follow-up as "gold standard").

Methods: 40 consecutive patients (pts), mean age 56, at their first uncomplicated acute myocardial infarction (AMI) treated with thrombolytic agents were studied. All underwent coronary angiography.

[Azlocillin in the treatment of pulmonary infections in patients with cystic fibrosis: plasma concentrations and therapeutic indications].

Azlocillin plasma concentrations have been studied in 10 cystic fibrosis patients suffering from chronic pulmonary infections with Pseudomonas aeruginosa. Patients were given single i.v.

[Sensitivity and specificity of antigliadine antibodies in the diagnosis of celiac disease in a population of children in Toscana].

The aim of this study was to determine the value of IgA and IgG antigliadin antibody test (AGA) for screening, diagnosis and follow-up of coeliac disease. A rapid, simple, sensitive and accurate immunosorbent assay (ELISA) was used to determine AGA IgA and IgG in the sera of patients with untreated coeliac disease (I stage), coeliac patients in gluten withdrawal, healthy controls, children with gastroenterological disorders other than coeliac disease and children with constitutional short stature. In the I stage of coeliac disease the AGA IgA gave a sensitivity of 90.

Hemodynamic changes during acetate dialysis, bicarbonate dialysis and hemofiltration.

Twenty uremic patients submitted to three different dialytic procedures (6 patients to acetate dialysis, 8 patients to bicarbonate dialysis, 6 patients to hemofiltration) were monitored in respect to the hemodynamic parameters recorded with a thermistor Swan-Ganz catheter. During acetate dialysis there was an increment of cardiac index (CI) up to positive values (+4.8%), while resistance index (RI) decreased progressively until it reached -16.

Biofiltration in chronic uremia: evaluation of long-term efficiency and hemodynamic tolerance with Swan-Ganz catheter.

Biochemical data and clinical tolerance were evaluated in eight uremic patients treated by Biofiltration (BF) for 5-20 months. In four patients hemodynamic parameters were monitored with a Swan-Ganz catheter during a session of BF. BF provides long-term biochemical safety and improved tolerance to fluid removal.

[Frequency of isolation and drug resistance of bacterial strains isolated from respiratory material in patients with cystic fibrosis].

During 1985, 251 respiratory samples from 61 patients were examined at the tuscan cystic fibrosis Center (Florence), and isolated strains were tested against various antimicrobial drugs. Pseudomonas aeruginosa and Staphylococcus aureus were the predominant pathogens isolated. Infections caused by St.

[Pharmacokinetics of oral theophylline. Comparison between asthmatic and cystic fibrosis patients].

The pharmacokinetics of oral theophylline at steady-state were comparatively investigated in 13 asthmatic patients and in 10 patients with cystic fibrosis (CF). In all patients, the drug was administered twice daily as slow-release tablets. The total daily dose of theophylline ranged from 10.

[Spiro-ergometric evaluation of a group of healthy young subjects: sedentary females, sedentary males and practicing male sports amateurs (jogging)].

In order to assess the qualitative and quantitative differences in physical performance, twenty sedentary females (Group A), twenty sedentary males (Group B) and twenty amateur sportsmen who jogged 45-60 min 2-3 times a week (Group C), have been evaluated by spiroergometric test on bicycle ergometer. At the submaximal level of 90 Watts the cardiorespiratory efficiency, as reflected by the values of double product (DP) and ventilatory equivalent (VE) was statistically different in the three Groups (A less than B less than C). At the maximal work the females, compared to sedentary males, achieved lower values (P less than 0.