Ruvalcaba-Myhre-Smith Syndrome

In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.     

The hand profile on de Lange syndrome: diagnostic criteria.

The hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non-de Lange). Based on a Poznanski metacarpophalangeal profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second and fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non-de Lange group. All 11 non-de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or more.     

Inlay‐retained cantilever fixed dental prostheses to substitute a single premolar: impact of zirconia framework design after dynamic loading

The purpose of this in‐vitro study was to evaluate the influence of the framework design on the durability of inlay‐retained cantilever fixed dental prostheses (IR‐FDPs), made from zirconia ceramic, after artificial ageing. Forty‐eight caries‐free human premolars were prepared as abutments for all‐ceramic cantilevered IR‐FDPs using six framework designs: occlusal–distal (OD) inlay, OD inlay with an oral retainer wing, OD inlay with two retainer wings, mesial–occlusal–distal (MOD) inlay, MOD inlay with an oral retainer ring, and veneer partial coping with a distal box (VB). Zirconia IR‐FDPs were fabricated via computer‐aided design/computer‐aided manufacturing (CAD/CAM) technology. The bonding surfaces were air‐abraded (50 μm alumina/0.1 MPa), and the frameworks were bonded with adhesive resin cement. Specimens were stored for 150 d in a 37°C water bath during which they were thermocycled between 5 and 55°C for 37,500 cycles; thereafter, they were exposed to 600,000 cycles of dynamic loading with a 5‐kg load in a chewing simulator. All surviving specimens were loaded onto the pontic and tested until failure using a universal testing machine. The mean failure load of the groups ranged from 260.8 to 746.7 N. Statistical analysis showed that both MOD groups exhibited significantly higher failure loads compared with the other groups (i.e. the three OD groups and the VB group) and that there was no significant difference in the failure load among the OD groups and the VB group. In conclusion, zirconia IR‐FDPs with a modified design exhibited promising failure modes.     

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Solute carrier family 22 member 5 (SLC22A5) encodes a sodium‐dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta‐oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature‐reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation.     

Chemoreceptors,baroreceptors, and autonomic deregulation in children with obstructive sleep apnea

Obstructive sleep apnea (OSA) is highly prevalent sleep disorder of breathing in both adults and children that is fraught with substantial cardiovascular morbidities, the latter being attributable to a complex interplay between intermittent hypoxia (IH), episodic hypercapnia, recurrent large intra-thoracic pressure swings, and sleep disruption. Alterations in autonomic nervous system function could underlie the perturbations in cardiovascular, neurocognitive, immune, endocrine and metabolic functions that affect many of the patients suffering from OSA. Although these issues have received substantial attention in adults, the same has thus far failed to occur in children, creating a quasi misperception that children are protected. Here, we provide a critical overview of the evidence supporting the presence of autonomic nervous system (ANS) perturbations in children with OSA, draw some parallel assessments to known mechanisms in rodents and adult humans, particularly, peripheral and central chemoreceptor and baroreceptor pathways, and suggest future research directions.