A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was exclude...

Low values of serum proteins and loss of lean body mass are commonly found in patients with chronic renal insufficiency (CRI) and especially in dialysis patients. These abnormalities have been attributed to malnutrition (i.e., an inadequate diet), but available evidence indicates that this is not the principal cause. In contrast, there is persuasive evidence that secondary factors associated wi...

The primary respiratory mechanism (PRM) as manifested by the cranial rhythmic impulse (CRI), a fundamental concept to cranial osteopathy, and the Traube-Hering-Mayer (THM) oscillation bear a striking resemblance to one another. Because of this, the authors developed a protocol to simultaneously measure both phenomena. Statistical comparisons demonstrated that the CRI is palpably concomitant wit...

Despite all efforts to alert the medical community about its multiple detrimental consequences, late nephrological referral of renal patients still remains a frequent problem in all countries. Recent studies show that up to 40% of patients suffering from chronic renal insufficiency (CRI) begin renal replacement therapy (RRT) less than 6 months after being referred to a renal unit, without havin...

Left ventricular hypertrophy (LVH) is the most important independent marker of cardiovascular risk in adults with chronic kidney disease. Cardiovascular morbidity seems increased even in children with chronic renal insufficiency (CRI), but the age and stage of CRI when cardiac alterations become manifest are unknown. For assessing the prevalence and factors associated with abnormal LV geometry ...

Objective(s): Ghrelin is a peptide hormone that has been shown to have numerous central and peripheral effects. The central effects including GH secretion, food intake, and energy homeostasis are partly mediated by Kiss1- KissR signaling pathway. Ghrelin and its receptor are also expressed in the pancreatic islets. Ghrelin is one of the key metabolic factors controlling insulin secretion from t...

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and m...

This manuscript reports on genomewide epigenetic alterations in cri-du-chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.

BACKGROUND AND PURPOSE Laparoscopic cryoablation (LCA) has emerged as an alternative to conventional surgery for the management of a T(1) renal mass; however, only few data are available on its functional outcomes. We assessed renal function changes after LCA in patients with normal renal function (NRF) and preexisting chronic renal insufficiency (CRI). PATIENTS AND METHODS Data of consecutiv...