Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report.

Duodenal atresia is rarely associated with situs inversus abdominus. We report a case of duodenal atresia associated with small bowel atresia of apple peel type and situs inversus abdominus.

[Evaluation of the measurement of capillary glucose concentration versus plasma glucose in the newborn]. / Fiabilité de la mesure de la glycémie capillaire par rapport à la glycémie plasmatique chez le nouveau-né.

BACKGROUND: The reliability of blood glucose monitoring in neonatology is not always confirmed. The aim of this study was to evaluate the reliability of blood glucose measurements made with three different devices in newborns. PATIENTS AND METHODS: The study was prospective, conducted in a medical and neonatal intensive care department over a period of 4 months. Capillary glucose level was measured with three different glucometers and compared with venous glucose level determined using the hexokinase method. An ANOVA and Scheffe test were used for the correlation analysis. RESULTS: Three hundred and nine infants were included, with a mean age of 55h and a mean term of 39 weeks of gestation. Mean blood glucose in the laboratory was 0.62±0.15g/L, 0.71±0.17g/L for Accu-Chek(®) Active, 0.80±0.17g/L for Accu-Chek(®) Performa, and 0.83±0.12g/L for Bionime. An ANOVA showed statistically significant differences between the measurements made by glucometers compared to the reference blood glucose levels, and the Scheffé method showed that glucometers overestimated the real plasma glucose levels. CONCLUSION: None of the devices used in this study was satisfactory. However, an estimation of blood glucose taking into consideration this numerical overestimation would allow early detection of hypoglycemia.

Comorbidity in the Tunisian population.

Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.

Sanjad-Sakati syndrome in a Tunisian child.

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.

Molecular characterization of piebaldism in a Tunisian family.

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.

[Neonatal hyperthyroidism and maternal Graves disease]. / Hyperthyroïdie néonatale et maladie de Basedow maternelle.

The onset of Graves disease during pregnancy exposes the neonate to the risk of hyperthyroidism. The newborn must be monitored and treatment modalities known to ensure early treatment of the newborn. We report on the case of an infant born at term of a mother with Graves disease discovered during pregnancy. He was asymptomatic during the first days of life, before declaring the disease. Neonatal hyperthyroidism was confirmed by hormonal assays. Hyperthyroidism was treated with antithyroid drugs and propranolol with a satisfactory clinical and biological course. Neonatal hyperthyroidism should be systematically sought in infants born to a mother with Graves disease. The absence of clinical signs during the first days of life does not exclude the diagnosis. The duration of monitoring should be decided according to the results of the first hormonal balance tests.

[Respiratory disorders among late-preterm infants in a neonatal intensive care unit]. / Morbidité respiratoire des prématurés tardifs dans une unité de soins intensifs néonatale.

INTRODUCTION: The rate of infants born at 34-36 weeks of gestation has increased over the last 20 years. These babies are at higher risk of morbidity, particularly respiratory, than full-term infants are. The purpose of this study was to describe the respiratory morbidity of late-preterm infants and identify risk factors. PATIENTS AND METHODS: This was a descriptive, single-center study including 273 late-preterm infants born in a tertiary care hospital between July 2009 and December 2010. RESULTS: Of the mothers who delivered, 53.9% had morbidity. The cesarean-section delivery rate before labor was 20.9%; the main indication was fetal growth restriction (34%). Sixty-four percent of newborns had morbidity during their hospitalization and 23.1% suffered from respiratory distress. Mechanical ventilation was needed in 4.4% of the infants. Respiratory distress was mainly caused by early-onset sepsis or transient tachypnea. Ten infants presented with respiratory distress syndrome, of whom seven received a surfactant. Neonatal respiratory distress risk factors were gestational age, sex, and prelabor cesarean section (P<0.05). CONCLUSION: Late-preterm infants have an increased risk of respiratory disorders requiring ventilation. Elective cesarean should be limited if possible during this period.

[Cervical teratoma in a child]. / Tératome cervical chez l'enfant.

Teratomas are unusual tumors derived from all 3 germs cells layers: endoderm, mesoderm, and ectoderm, with varying proportions. The cervical area is exceptionally affected. We report 4 cases of cervical teratoma. The clinically and radiologically suggested diagnosis was confirmed by histology. We describe herein the main clinical, radiological, and histological aspects and outcomes of this disease. Despite its most often benign histologic nature, cervical teratoma may threaten newborn infants' life due to airway compression. A multidisciplinary approach to the disease starting at delivery is required to improve the prognosis.

Molecular characterization of maple syrup urine disease patients from Tunisia.

Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1α, E1ß and E2 subunits of the complex. In this study we report the molecular characterization of 3 Tunisian patients with the classic form of MSUD. Two novel putative mutations have been identified: the alteration c.716A>G (p.Glu239Gly) in BCKDHB and a small deletion (c.1333_1336delAATG; p.Asn445X) detected in DBT gene.

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.

The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.

[A case of hypernatremic dehydration due to breast-feeding]. / Déshydratation hypernatrémique au cours d'un allaitement maternel.

The authors report an 11-day-old exclusively breast-fed female, with a birth weight of 3 300 g, who had suffered from dehydration stage I, with acute renal failure and metabolic acidosis, with 170 mmol/L of serum sodium. Renal ultrasounds were normal but the rate of sodium in mother's milk was three times higher than controls (87 versus 21 mmol/L). Intravenous rehydration allowed the correction of hydroelectrolytic disorders.

[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease]. / Analyse moléculaire de la mutation p.Asn 370 Ser dans la maladie de Gaucher.

Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The application of combined methods in molecular biology allowed us to analyse the p.Asn 370 Ser mutation. The affected individual activity is very low. First, we have to used the enzymatic digestion method. Then, we have to identified the mutation by the refractory mutation system technique using specific primers for the p.Asn 370 Ser mutation. These analyses are supplemented by the direct sequencing in order to seek and confirm this mutation. Finally, the absence of the 55 pb deletion in exon 9 among corroborated the presence of the homozygous genotype of this p.Asn 370 Ser in the patient DNA.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by short stature, hepatomegaly, hypoglycaemia, hyperuricaemia, and lactic acidaemia. Various mutations have been reported in the G6Pase gene (G6PC). In order to determine the mutation spectrum in Tunisia, we performed mutation analysis in 22 Tunisian type I glycogen storage disease (GSD I) patients belonging to 18 unrelated families. All patients were clinically classified as GSD Ia. The R83C mutation was found to be the major cause of GSD Ia, accounting for 24 of 36 mutant alleles (66.6%), The R170Q mutation was the second most frequent mutation; it accounts for 10 of 36 mutant alleles (27.7%). The R83C and R170Q mutations could be rapidly detected by PCR/RFLP. Since the majority of Tunisian patients carried R83C and/or R170Q mutations, we propose direct screening of these mutations as a rapid, valuable and noninvasive tool for diagnosis of GSD Ia in Tunisian as well as in Northern African populations.

[Biochemical and molecular diagnosis of Gaucher disease in Tunisia]. / Diagnostic biochimique et moléculaire de la maladie de Gaucher en Tunisie.

Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father beta-glucocerebrosidase (GCB) activity showing a deficit. These biochemical analyses are supplemented by molecular studies: enzymatic digestion and the direct sequencing. Two mutations were analysed, the p.Asn 370 Ser and the p.Leu 444 Pro. The DNA sequencing confirmed the presence of the homozygous genotype of this p.Asn 370 Ser in the father DNA and the heterozygous one in the two children DNA. It has no detection of the 55 pb deletion in exon 9 among all the specimens of DNA treated. The mutation p.Asn 370 Ser is associated with Gaucher disease type 1 correlated of a total absence of neurological involvements.