Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2.

Introduction Aldosterone synthase deficiency is a rare autosomal recessive disease characterized by vomiting, dehydration, salt wasting, life-threatening hyperkalemia in infancy, followed by failure to thrive. It results from pathogenic variants in CYP11B2. Case Presentation A boy, born in Montreal to Lebanese parents who are first cousins, was referred at nine days of life for severe dehydration. A diagnosis of primary adrenal insufficiency was made, and treatment was started with fludrocortisone and hydrocortisone. Exome sequencing revealed a homozygous variant p.(Asn201Asp)(N201D). In silico, this variant was considered benign, but in vitro functional expression studies established it caused the severe aldosterone deficiency. It ended the diagnostic odyssey and allowed to safely stop hydrocortisone replacement. Conclusion If a gene variant co-segregates with a phenotype, in vitro functional studies are required even if in silico studies are negative.

Awareness Campaign for the Early Detection of Growth Disorders in Public School Children in North Lebanon.

OBJECTIVE: To detect and screen growth anomaly among children in North Lebanon, raise awareness on the importance of regular height check, and establish recommendations for the authorities. DESIGN: 18-month campaign. SETTING: 230 public schools in North Lebanon. PARTICIPANTS: 41,347 children, aged 5-15 years. INTERVENTIONS: Weight was measured using a standardized stadiometer and compared with French curves of height-for-age. Awareness was raised by promoting early detection of growth disorders in Lebanon. The follow-up phase was intended to secure referral and treatment of the detected short stature children. MAIN OUTCOME MEASURES: Age, sex, height, societal issues. RESULTS: 40,023 students were recruited from 228 schools; of these, 63.7% of the screened children were aged 5-10 years. Four percent (1,631 children) of the screened population presented short stature, of whom 50% were aged 5-10 years and 41% were more severely affected and referred to specialists; 59% were first directed to the school physician/pediatrician. The follow-up phase was not achieved because of the patients' low socioeconomic level. We also found that many children were too old for the attended level at school, mainly because of low socioeconomic levels and educational backwardness. CONCLUSIONS: Our screening campaign confirms the need for more awareness on the importance of early detection of growth retardation in Lebanon. It highlights the need for making efforts to reduce poverty and its consequences in North Lebanon. Our future goal is to expand our campaign throughout Lebanon and cooperate with health authorities to lower the cost of work-up on the patient.

Enhanced solid waste stabilization in aerobic landfills using low aeration rates and high density compaction.

Historically, municipal solid waste landfills have been designed and operated as storage facilities with suboptimal degradation under anaerobic conditions resulting in slow waste stabilization, gaseous emissions and leachate formation. This article examines the aerobic bioreactor alternative combining the recirculation of high strength leachate [chemical oxygen demand (COD): 89,000-95,600 mg/l; biological oxygen demand (BOD): 75,700-80,000 mg/l)] with low aeration rates (0.0125-0.05 l/min.kg) at high initial waste compaction (657-875 kg/m3) to promote and control biodegradation of solid waste in laboratory-scale columns (diameter = 60 cm, height = 1 m). Low aeration rates coupled with high initial density demonstrated improved performance with increased levels of stabilization with COD and BOD attenuation reaching up to 96%, final C:N ratio of 25 and waste settlement up to 55%.