Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Background: TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic paraparesis (SPG49).

Hospital versus home treatment of respiratory exacerbations in cystic fibrosis.

Background: Treatment of respiratory exacerbations in Cystic Fibrosis (CF) is important in slowing disease progression. The treatment may be given either at home or at the hospital. The aim of our study was to compare both treatment settings.

Aeration properties of a new sleeping surface for infants.

Background: Prone sleeping position, use of soft mattresses and head covering by bedclothes are known risk factors for sudden infant death syndrome (SIDS). Rebreathing carbon dioxide (CO(2) ) may be a possible mechanism or a confounding factor of SIDS.

Objective: To compare the aeration properties of a new concept of infant sleeping surface (Net) to three commercial mattresses advertised to improve aeration and to two standard infant mattresses.

Outcome of patients with cystic fibrosis admitted to the intensive care unit: is invasive mechanical ventilation a risk factor for death in patients waiting lung transplantation?

Objective: The admission of patients with cystic fibrosis (CF) to the intensive care unit (ICU) is controversial. Our aim was to study the long-term outcome of patients with CF who were admitted to the ICU and the effect of ventilation modality.

Methods: The medical records of 104 admissions (1996-2006) of 48 patients with CF (age 18+/-9 years) were reviewed.

Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study.

Objectives: Patients with cystic fibrosis (CF) presenting with meconium ileus (MI) tend to have worse outcomes than those without MI. We evaluated the clinical characteristics and survival rates among Israeli patients with CF with and without MI after a prolonged follow-up (15-30 years).

Patients And Methods: A multicenter retrospective study.

The relation between age and time to maximal bronchoconstriction following exercise in children.

Background: The exercise challenge test (ECT) is a common tool for assessment of asthma in children. Many studies suggest that the "time to maximal bronchoconstriction" (Nadir-t) after exercise challenge in asthmatic children may be age-dependent, although this has never been systematically studied. Such findings may influence epidemiological surveys where the schedule of post-exercise measurements is trimmed.

Flexible bronchoscopy and bronchoalveolar lavage in pediatric patients with lung disease.

Objective: The use of flexible bronchoscopy (FOB) and bronchoalveolar lavage (BAL) in investigating pediatric patient with airway abnormalities and pulmonary infiltrates are indispensable and are now a routine procedure in many centers. Immunocompromised and cancer patients, especially after bone marrow transplantation, and children who have undergone surgery for congenital heart disease (CHD) are at high risk for pulmonary disease. Our aim was to study the diagnostic rate, safety, and clinical yield of FOB in critically ill pediatric patients.

Exercise challenge test in 3- to 6-year-old asthmatic children.

Rationale: The exercise challenge test (ECT) is a common tool to assess exercise-induced asthma (EIA) in school-aged children. EIA has not been explored in the early childhood setting.

Objective: To assess the existence of EIA in children in this age group.

Spirometry in early childhood in cystic fibrosis patients.

Background: Spirometry data in cystic fibrosis (CF) patients in early childhood is scarce, and the ability of spirometry to detect airways obstruction is debatable.

Objective: To evaluate the ability of spirometry to detect airflow obstruction in CF patients in early childhood.

Methods: CF children (age range, 2.

Melatonin treatment in adolescents with delayed sleep phase syndrome.

This retrospective study describes the effects of long-term treatment with melatonin in 33 adolescents (age range, 10-18 years) with delayed sleep phase syndrome (DSPS). Patients were treated with oral melatonin, 3 to 5 mg/day for an average period of 6 months. During the treatment, sleep onset was advanced and sleep duration was longer.

Fiberoptic bronchoscopy and bronchoalveolar lavage for the evaluation of pulmonary disease in children with primary immunodeficiency and cancer.

Background: Patients with childhood cancer or primary immunodeficiencies (PID) are at high risk for developing pulmonary infections and non-infectious complications. The broad differential diagnoses and the critical condition of these patients often drive physicians to start broad-spectrum antibiotic therapy before a definite diagnostic procedure is performed. A definite diagnosis may be achieved in these situations by fiberoptic bronchoscopy (FOB) and bronchoalveolar lavage (BAL).

Pregnancies and outcome in women with cystic fibrosis.

Background: Along with the increased life expectancy in cystic fibrosis and the remarkable progress in its management and therapy, issues of female fertility and pregnancy are frequently raised. These include infertility, severity of lung disease, pancreatic insufficiency, poor nutritional status, glucose intolerance and diabetes, drug safety, and long-term maternal and neonatal outcome.

Objective: To describe the experience of our CF center in the management of CF pregnant woman from 1977 to 2004.

Systemic inflammatory mediators and cystic fibrosis genotype.

Morbidity and mortality in cystic fibrosis patients is mainly attributed to pulmonary infection and inflammation. Chemokines play a pivotal role in the inflammatory process. Although genotype-phenotype correlation in cystic fibrosis patients has been defined, a clear relationship between the defect in the cystic fibrosis transmembrane regulator (CFTR) gene and pulmonary inflammation has not been established.

Long-term non-invasive positive pressure ventilation among cystic fibrosis patients awaiting lung transplantation.

Background: Pulmonary disease is the most frequent cause of morbidity and mortality in cystc fibrosis patients. New techniques such as non-invasive positive pressure ventilation have resulted in prolongation of life expectancy in CF patients with end-stage lung disease.

Objectives: To determine the role of NIPPV in CF patients awaiting lung transplantation.

Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests.

Patients with normal or borderline sweat tests present a diagnostic challenge. In spite of the availability of genetic analysis and measurement of nasal potential difference, there is still uncertainty in diagnosing cystic fibrosis in some patients. CA 19-9 is a tumor-associated antigen whose levels were previously found to be elevated in some cystic fibrosis patients.

Liver cirrhosis and portal hypertension in cystic fibrosis.

Objectives: Liver disease is the second cause of death in cystic fibrosis. The most deleterious complication of liver disease is portal hypertension, which has an estimated prevalence of up to 8%. Portal hypertension may manifest itself by splenomegaly, hypersplenism, gastro-oesophageal bleeding and ascites.

Reversal of digital clubbing after lung transplantation in cystic fibrosis patients: a clue to the pathogenesis of clubbing.

Digital clubbing is a common sign in cystic fibrosis (CF) and in a variety of other diseases. However, its pathogenesis remains obscure. In diseases other than CF, regression of clubbing has been noted after cure of the underlying disease.

Effects of an intensive 4-week summer camp on cystic fibrosis: pulmonary function, exercise tolerance, and nutrition.

Study Objectives: Cystic fibrosis (CF) patients prefer exercise to most other forms of therapy, although objective improvement remains controversial. Israeli CF patients have attended a summer program in Switzerland for many years with subjective improvement. However, CF camps worldwide have been cancelled recently, due to fears of cross-infection with resistant organisms.

Prediction of mortality and timing of referral for lung transplantation in cystic fibrosis patients.

Lung transplantation (Tx) is an optional treatment for cystic fibrosis (CF) patients with end-stage lung disease. The decision to place a patient on the Tx waiting list is frequently complex, difficult, and controversial. This study evaluated the current criteria for lung Tx and assessed additional parameters that may identify CF patients at high risk of death.

Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests.

Patients with normal or borderline sweat test present a diagnostic challenge. In spite of the availability of different methods such as genetic analysis and measurements of nasal potential difference, uncertainty in diagnosing cystic fibrosis (CF) in some patients still exists. Neonates with CF have high serum lipase levels, which decline over time in pancreatic-insufficient patients, whereas pancreatic-sufficient patients demonstrate high serum lipase levels beyond infancy.

Lundh meal: a single non-invasive challenge test for evaluation of exocrine and endocrine pancreatic function in cystic fibrosis patients.

The determination of endocrine and exocrine pancreatic function in cystic fibrosis patients is clinically important. Recently, a new non-invasive test, in which pancreatic stimulation by a Lundh meal is followed by sequential serum lipase measurements, was found to be a good indicator of exocrine pancreatic status. Since the Lundh meal also contains glucose, the present study assessed whether it also might be suitable for evaluation of the pancreatic endocrine axis.

Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis.

Determination of pancreatic function is essential in cystic fibrosis. The most-reliable method is by measuring pancreatic enzymes in the duodenum following intravenous or oral stimulation. However, this is invasive, time consuming, and expensive.

Virtual bronchoscopy in children: early clinical experience.

Objective: Virtual bronchoscopy is a new noninvasive technique that provides an internal view of the tracheobronchial tree. The purpose of our study was to assess the role of this technique as compared with fiberoptic bronchoscopy in the evaluation of suspected compression or narrowing of the trachea and main bronchi in children.

Conclusion: Preliminary results suggest that virtual bronchoscopy may have a useful complementary role to fiberoptic bronchoscopy in evaluation of the tracheobronchial tree of children.

Severe acute asthma in a community hospital pediatric intensive care unit: a ten years' experience.

Background: The clinical literature on the incidence and subsequent mortality of asthma has come primarily from the experiences of large tertiary referral centers, particularly in Western Europe and North America. Consequently, very little has been published on the incidence, management, and outcome of asthma in smaller, community-based intensive care units.

Objectives: The purpose of this study was to explore the course and outcome of children with acute severe asthma treated within a community hospital PICU compared with those described in the literature from larger tertiary referral centers.