Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.

Background: Abetalipoproteinemia, a recessive disease resulting from deleterious variants in MTTP (microsomal triglyceride transfer protein), is characterized by undetectable concentrations of apolipoprotein B, extremely low levels of low-density lipoprotein cholesterol in the plasma, and a total inability to export apolipoprotein B-containing lipoproteins from both the intestine and the liver.

Objective: To study lipid absorption after a fat load and liver function in 7 heterozygous relatives from 2 abetalipoproteinemic families, 1 previously unreported.

Results: Both patients are compound heterozygotes for p.

Cervical bronchogenic cysts: usual and unusual clinical presentations.

Objective: To discuss the clinical, radiologic, and histopathologic characteristics of cervical bronchogenic cysts.

Design: Retrospective case study using a pathologic database at our institution.

Setting: Pediatric hospital.

Molecular diagnosis of Saksenaea vasiformis cutaneous infection after scorpion sting in an immunocompetent adolescent.

We report the first case of cutaneous mucormycosis after a scorpion sting in Tunisia. Histopathology showed broad aseptate hyphae suggestive of a Zygomycete. Saksenaea vasiformis was identified by PCR amplification and sequencing of the fungal DNA on a cutaneous biopsy.

[Hamartoma of the spleen (splenoma) in a child with sickle cell anemia].

Hamartomas of the spleen or splenomas are uncommon benign lesions that predominantly occur in adults. We report a case of an 11-year-old girl with sickle cell anemia who had a single splenic 1.8 cm nodule incidentally found during splenectomy and histologically characterized by disorganized red pulp tissue without interspersed white pulp leading to the diagnosis of hamartoma.

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Syndromes with smooth muscle dysmotility are uncommon, and may be related either to smooth muscle myopathy, or to neuropathy. In most instances, neuropathic visceral dysmotility is an isolated finding leading to chronic intestinal pseudo-obstruction syndrome (CIPO). We report here on two sibs, born to consanguineous parents, with neuropathic visceral dysmotility and CNS anomalies.

Endothelin receptor expression in human lungs of newborns with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a major cause of refractory respiratory failure in the neonatal period and is characterized by persistent pulmonary hypertension of the newborn (PPHN) and pulmonary hypoplasia. Endothelin-1 (ET-1) dysregulation may play a significant role in the pathophysiology of PPHN and ET-1 acts through binding to type A (ETA) and type B (ETB) receptors. Therefore, ETA and ETB receptor protein expression was studied using immunohistochemistry in 10 lung specimens obtained from newborns with CDH, and 4 normal lung specimens, in order to explore whether dysregulation of ETA and ETB expression contributes to PPHN.

Neonatal exposure to 65% oxygen durably impairs lung architecture and breathing pattern in adult mice.

Study Objective: To test the hypothesis that exposure to hyperoxia during the postnatal period of rapid alveolar multiplication by septation would cause permanent impairments, even with moderate levels of hyperoxia.

Design: We exposed mouse pups to 65% O(2) (hyperoxic mice) or normoxia (normoxic mice) during their first postnatal month, and we analyzed lung histology, pulmonary mechanics, blood gas, and breathing pattern during normoxia or in response to chemical stimuli in adulthood, when they reached 7 to 8 months of postnatal age.

Results: Hyperoxic mice had fewer and larger alveoli than normoxic mice (number of alveoli per unit surface area of parenchyma, 266 +/- 62/mm(2) vs 578 +/- 77/mm(2), p < 0.