Neonatal stridor and laryngeal cyst: Which comes first?

Neonatal stridor is a rare condition usually caused by laryngomalacia. Congenital laryngeal cyst represents an uncommon cause of stridor in the neonatal population and may be misinterpreted as laryngomalacia, leading to serious morbidity and mortality if diagnosis and treatment are delayed. Herein we report the case of a full‐term infant with stridor, feeding problems and failure to thrive. Initially, direct laryngoscopy diagnosed only laryngomalacia. As stridor worsened, however, and respiratory distress appeared, repeat laryngoscopy showed vallecular laryngeal cyst, visible macroscopically. The patient was successfully treated with endoscopic marsupialization. There was no evidence of recurrence at follow up after 3 months. This case highlights the importance of laryngoscopic assessment for suspected laryngeal abnormalities in infants with stridor. If symptoms worsen, endoscopy should be repeated, because congenital laryngeal cysts may not be immediately visible macroscopically.     

No evidence of increased risk for certain highly atherogenic lipoprotein phenotypes in HIV-infected patients

BACKGROUND: There is a need to assess whether human immunodeficiency virus (HIV)-infected patients are more likely than noninfected individuals to have any of the specific lipoprotein combination profiles identified as the best predictors of future cardiovascular disease in the general population. METHODS: One hundred five infected patients, randomly selected from a Mexican HIV clinic, and 105 age- and gender-matched noninfected community volunteers, were enrolled to study the prevalence of each of three highly atherogenic lipoprotein phenotypes [high apolipoprotein (Apo)B/ApoA-I ratio, hypertriglyceridemia with high ApoB and hypoalphalipoproteinemia with high ApoB], and the relationship between time of exposure to antiretroviral therapy (ART) drug class and lipid changes. RESULTS: The highly atherogenic lipoprotein phenotypes were similarly frequent in both groups. There was a nonsignificant increased risk of dyslipidemia with longer exposure to any of the ART drug classes, although this hazard seems to be greater in patients with central fat accumulation. CONCLUSIONS: No evidence of increased risk for certain highly atherogenic lipoprotein phenotypes in HIV-infected patients was found. More than one pathogenic mechanism for ART-associated dyslipidemia is postulated.     

The New Apolipoprotein A-I Variant Leu174 → Ser Causes Hereditary Cardiac Amyloidosis, and the Amyloid Fibrils Are Constituted by the 93-Residue N-Terminal Polypeptide

We identified a novel missense mutation in the apolipoprotein A-I gene, T2069C Leu(174) --> Ser, in a patient affected by familial systemic nonneuropathic amyloidosis. The amyloid deposits mostly affected the heart of the proband, who underwent transplantation for end-stage congestive heart failure. Amyloid fibrils of myocardial and periumbilical fat samples immunoreacted exclusively with anti-ApoA-I antibodies. Amyloid fibrils extracted from the heart were constituted, according to amino acid sequencing and mass spectrometry analysis, by an amino-terminal polypeptide ending at Val(93) of apolipoprotein A-I (apoA-I); no other significant fragments were detected. The mutation segregates with the disease; it was demonstrated in the proband and in an affected uncle and excluded in three healthy siblings. The plasma levels of high-density lipoprotein and apoA-I were significantly lower in the patient than in unaffected individuals. This represents the first case of familial apoA-I amyloidosis in which the mutation is outside the polypeptide fragment deposited as fibrils. Visualization of the mutation in the three-dimensional structure of lipid-free apoA-I, composed of four identical polypeptide chains, indicates that position 174 of one chain is located near position 93 of an adjacent chain and suggests that the amino acid replacement in position 174 is permissive for a proteolytic split at the C-terminal of Val(93).     

Non-steroidal anti-inflammatory drug induces luteinized unruptured follicle syndrome in young female juvenile idiopathic arthritis patients

Clinical Rheumatology - To assess prospectively luteinized unruptured follicle (LUF) syndrome in juvenile idiopathic arthritis (JIA) patients with and without non-steroidal anti-inflammatory drugs...     

High rate of serious infection in juvenile idiopathic arthritis patients under biologic therapy in a real-life setting

Objectives: To assess the rate of serious and/or opportunistic infections in juvenile idiopathic arthritis (JIA) patients from a single tertiary center under biologic therapy and to identify possible risk factors associated to these complications.

Methods: A total of 107 JIA patients followed at the biologic therapy center of our tertiary university hospital using a standardized electronic database protocol including demographic data, clinical and laboratorial findings and treatment at baseline and at the moment of infection. Opportunistic infections included tuberculosis, herpes zoster and systemic mycosis.

Results: A total of 398 patient-yrs(py) were included. The median time of biologic exposure was 3.0 years (0.15–11.5). We observed 35 serious/opportunistic infectious events in 27 (25%) patients: 31(88.6%) were serious infections and four (11.4%) opportunistic infections. Serious/opportunistic infections rates were 10.6/100py for ETN, 10.9/100py for ADA, 2.6/100py for ABA and 14.8/100py for TCZ. Comparison of 27 patients with and 80 without infection showed a higher frequency of systemic-onset JIA, lower age at biologic therapy initiation and a history of previous serious infection (p?Conclusions: This study demonstrated a high rate of serious infections in JIA patients under biologic therapy in a real-life setting. Systemic-onset JIA, lower age at biologic therapy start and history of previous serious infections were important risk factors for these complications. Also, higher rates of severe infections comparing to the former studies was possibly due to elevated MTX doses in our patients.