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Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy. SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in exon 3 of this gene. We report on a Tunisian child with SSS who was homozygous for the 155-166del mutation. Our findings provide additional support of the common (155-166del) deletion founder effect in exon 3 of the TBCE gene in Arab patients. It is very likely that this mutation originated in the Middle East and was introduced in Tunisia by the Banu Hilal invaders., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Objective: The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism., Methods: As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the KIT proto-oncogene by direct sequencing., Results: Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C>T) in heterozygous state in the patient and her mother. The mutation was not found in their unaffected family members or normal controls., Conclusion: Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Introduction: Drugs' administration via feeding tubes is a potential source of iatrogenic events for the intensive care patients because of the problem of not adapted galenic forms., Objectives: We analyzed the prescriptions of patients with enteral feedings to determine if the galenic forms were compatible with administration via feeding tubes. We also observed and analyzed the methods of drugs passage by nurses., Patients and Methods: We analyzed 30 prescriptions of patients with enteral feedings in the intensive care unit of Habib Bourguiba Sfax hospital, by a prospective and exhaustive way. We also, observed and evaluated the practices of preparation and administration of drugs to these patients via feeding tube by nurses., Results: Only 12% of drugs were liquids. Eighty-eight percent of the drugs were pulverised and capsule open before administration. The galenic form was not in conformity for 20% of drugs because of the prohibition to crushing tablet or opening capsule (gastroresistant form was dissolved), or because of the administration of a parenteral form (risk of irritation). Among 78 drugs administered by 10 different nurses, the time between passage of the drug and enteral nutrition were not respected for 59% of the observations. The drugs were managed in mixture for 90% of the observations. The gloves were not worn in 80% of observations. No rinsing is made between consecutive administrations and before administration., Conclusion: This study shows that it is possible to reduce risk of administration errors in the intensive care unit and to facilitate the administration of drug via feeding tube by prescribing liquid oral form or soluble solid oral form. It also shows the need for cooperation with the pharmacist in order to adapt the galenic forms and to redact protocol of administration., (Copyright © 2012 Société française d’anesthésie et de réanimation (Sfar). Published by Elsevier SAS. All rights reserved.)

The Human Genome Project improves our understanding of the molecular genetics basis of the inherited and complex diseases such as diabetes, schizophrenia, and cancer. Information from the human genome sequence is essential for several antenatal and neonatal screening programmes. The new genomic tools emerging from this project have revolutionized biology and medicine and have transformed our understanding of health and the provision of healthcare. Its implications pervade all areas of medicine, from disease prediction and prevention to the diagnosis and treatment of all forms of disease. Increasingly, it will be possible to drive predisposition testing into clinical practice, to develop new treatments or to adapt available treatments more specifically to an individual's genetic make-up. This genomic information should transform the traditional medications that are effective for every members of the population to personalized medicine and personalized therapy. The pharmacogenomics could give rise to a new generation of highly effective drugs that treat causes, not just symptoms.