Mutations of the lamin A gene cause various premature aging syndromes, including Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome. In HGPS (but not atypical Werner syndrome), extensive loss of vascular smooth muscle cells leads to myocardial infarction with premature death. The underlying mechanisms how single gene mutations can cause various phenotypes are largely unkno...

Neonatal abstinence syndrome (NAS) is becoming a national epidemic. Neonates with NAS display myriad signs during withdrawal from the drugs they were exposed to in utero. One sign is skin excoriation, as well as other skin injuries. While care of the neonate experiencing NAS has been well documented in the literature, the care of the skin of that neonate has not. The purpose of this monograph i...

Neonatal sepsis is a leading cause of neonatal mortality. Congenital heart disease accounts for additional risk of sepsis in neonates. Here we report a case of Down's syndrome with late onset neonatal sepsis associated with multiple superficial skin abscesses simulating staphylococcal infection. The baby was empirically treated with vancomycin. Subsequently, multidrug resistant Klebsiella pneum...

Background: The purpose of this study was to evaluate the effect of prophylactic vaginal progesterone in decreasing preterm birth rate and neonatal complications in a high-risk population. Materials and Methods: A randomized, double-blind, placebo- controlled study included 100 high-risk singleton pregnancies( prior preterm birth,short cervix,uterine malformations and large intramural uterine m...

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities a...

OBJECTIVE. The purpose of this research was to assess the effects of breast milk on the severity and outcome of neonatal abstinence syndrome. METHODS.We conducted a retrospective chart review of 190 drug-dependent mother and infant pairs. Patients were categorized according to the predominant type of milk consumed by the infant on the fifth day of life (breast milk: n 85 or formula: n 105). The...

Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCN...

UNLABELLED Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also called Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic disease with early onset affecting mainly the central nervous system, bones and joints and may lead to permanent damage. We report two preterm infants with severe CINCA syndrome treated by anti-interleukin-1 in the neonatal period, alth...

The A- and B-type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease-causing mutations, termed 'laminopathies,' have been mapped throughout LMNA, the gene for A-type lamins in humans. Laminopathies can range from muscul...