Biomedical subjects

H Mussaffi

Publications and source records attributed to H Mussaffi.

7 recordsLinked to original sources

PubMed2000

Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.

An infant with cystic fibrosis and her asthmatic father were diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis was diagnosed in the infant at 6 weeks of age, and gene mutations were W1282X/G542X. She was diagnosed definitively as suffering from ABPA at age 3.5 years, but had suggestive symptoms from age 11 months. This may be the youngest age described to date for ABPA. The child responded well to systemic steroid therapy, but remained steroid-dependent over the next 4 years. Treatment with itraconazole enabled a marked reduction in steroid dosage. The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. He had a normal sweat test, atopy, and moderate reversible airway obstruction. There was no proven exposure to Aspergillus in the home environment. The importance of considering the diagnosis of ABPA even in infancy, the therapeutic dilemmas, and the possible role of abnormal CFTR function in the development of ABPA are discussed.

Adult↗

PubMed2000

Selected abstracts

Explore the source record for details and available documents.

Journal Article↗

PubMed2000

Reaching the diagnosis of cystic fibrosis--the limits of the spectrum.

BACKGROUND: Cystic fibrosis is the most common life-limiting autosomal recessive genetic disorder in Caucasians. Typically it is a multisystem disease diagnosed by increased chloride levels on sweat testing, with mortality due mainly to progressive respiratory disease. The clinical spectrum of CF has recently been much expanded. Genetic testing for mutant CF transmembrane regulator has revealed atypical cases where sweat test results are borderline or normal. In other patients, genetic mutations cannot be identified but abnormal CFTR function is shown using nasal potential difference measurement. OBJECTIVES: To highlight the diagnostic and therapeutic dilemmas in cases of atypical cystic fibrosis. METHODS: We reviewed patients with atypical CF and widely varying phenotype who are managed at Schneider Children's Medical Center of Israel. RESULTS: Two patients had severe lung disease but little expression in other organs. Accurate diagnosis was essential to enable aggressive therapy in a specialized center. Four other patients are in excellent general health but have symptoms limited to male infertility, heat exhaustion, pancreatitis or transient liver dysfunction, while lung disease is minimal. For these patients, careful counseling is needed to avoid unnecessary upheaval, inappropriately aggressive management, and the psychosocial implications of a CF diagnosis. These dilemmas have increased considerably in our center, as in others worldwide. CONCLUSION: It is our obligation as clinicians--at the level of both primary physician and referral center--to maintain an ever higher index of suspicion for CF, tempered by a rational program of counseling and management appropriate to the individual.

Adult↗

PubMed1986

Increased bronchial responsiveness to exercise and histamine after allergen challenge in children with asthma.

Nonspecific bronchial reactivity to exercise and histamine was measured in nine children with asthma before and within nine days after allergen inhalation. All patients developed an immediate fall in FEV1 of greater than or equal to 16% after allergen inhalation, and five children also developed a definite late asthmatic response with a fall in peak expiratory flow of greater than or equal to 14% after 3 to 8 hours. Mean postexercise fall in FEV1 (delta FEV1) of the whole group was significantly greater after allergen challenge compared with that of control subjects (29 +/- 6% and 16 +/- 4%; p = 0.013). There was no change in refractoriness to repeated exercise after allergen challenge. The mean provocation concentration of histamine causing a decrease in FEV1 of 20% of the whole group was less after allergen challenge compared with that of control subjects (0.47 +/- 0.18 and 0.62 +/- 0.13), but this was not statistically significant (p = 0.19). Of the five children with late allergen reactions, all demonstrated increased histamine sensitivity, and all four children who developed definite exercise-induced asthma also demonstrated increased sensitivity to exercise. Of the four children without late allergen reactions, none demonstrated increase histamine sensitivity, but two of the three children with definite exercise-induced asthma demonstrated increased sensitivity to exercise. It may be that sensitivity to exercise is more easily affected by nonspecific reactivity than sensitivity to histamine. It is concluded that increased bronchial responsiveness to both exercise and histamine occur after allergen provocation in patients with asthma.

Adolescent↗

PubMed1986

Ethmoiditis-associated periorbital cellulitis.

Seventy-two children with periorbital cellulitis were followed prospectively during a 30-month study period. Twenty patients (28%) had mucopurulent rhinorrhea with obvious radiological ipsilateral opacity of the ethmoid sinuses. This group of patients, as opposed to patients with periorbital cellulitis and no associated ethmoiditis, is characterized by the following features: Higher incidence of temperature greater than 38.5 degrees C (16/20 vs 24/52. P less than 0.01) and elevated white blood count greater than 15,000 cells/mm3 on admission (10/20 vs 5/52. P less than 0.001). Delayed recovery (6.7 +/- 3.4 vs 3.4 +/- 1.6 days. P less than 0.001). Higher rate of recurrent periorbital cellulitis with associated ethmoiditis within 6 months of follow-up (5/20 vs 1/52. P less than 0.01). This ethmoiditis-associated serious form of periorbital cellulitis requires an aggressive treatment regimen and a prolonged follow-up.

Anti-Bacterial Agents↗

PubMed1983

Treatment of status epilepticus with thiopentone sodium anaesthesia in a child.

A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminating the status epilepticus. The clinical course, correlary EEG findings, treatment protocol and blood levels of the drugs given are described in detail.

Anesthesia, General↗

PubMed1983

Intracranial pressure in central nervous system infections and cerebral ischaemia of infancy.

Intracranial pressure was continuously monitored in 23 patients aged between 24 hours and 20 months. Fourteen had severe infections of the central nervous system (CNS) and 9 sustained prolonged cerebral ischaemia. The intracranial pressure measured at catheter placement was not a reliable indicator of the intracranial pressure that developed during the course of the disease. The mean maximal intracranial pressure in infants with CNS infection (57.4 +/- 25.8 mmHg) was significantly higher than in infants with cerebral ischaemia (34.6 +/- 17.6 mmHg). Mortality in CNS infections (36%) was closely correlated with the degree of increased intracranial pressure, while mortality in cerebral ischaemia (67%) was not. Continuous monitoring of intracranial pressure enables treatment to be started early so that intracranial pressure can be reduced and adequate cerebral perfusion pressure maintained. This may help to reduce morbidity and mortality.

Brain Ischemia↗