Pearson marrow‑pancreas syndrome (PS) is a progressive multi‑organ disorder caused by deletions and duplications of mitochondrial DNA (mtDNA). PS is often fatal in infancy, and the majority of patients with PS succumb to the disease before reaching three‑years‑of‑age, due to septicemia, metabolic acidosis or hepatocellular insufficiency. The present report describes the case of a four‑month‑old...

an 18-year-old girl fulfilled the diagnostic criteria for the proteus syndrome (ps). here we report our findings in comprehensive general physical and ocular examination and review the literature focused on clinical manifestations and differential diagnoses. the patient had ‘mild’ involvement of the ophthalmic apparatus: absent foveal reflex, cataract, and abnormal retinal vessels, which in the...

Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in scientific literature. In all report...

The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of PS and explores the possible mechanisms between the 2 diseases. The patient is a 17-year-old Chinese female with scoliosis and hemihypert...

OBJECTIVES To describe the epidemiology of eating disorders (ED) in a community sample of adolescent girls; to compare the clinical characteristics of full-syndrome (FS) and partial-syndrome (PS) ED cases; and to provide information about the continuity between adolescent ED and young adult psychopathology. METHOD A randomly selected sample of high school girls were assessed during adolescenc...

STUDY OBJECTIVES To determine the diagnostic utility of a nasal cannula/pressure transducer (NC), in comparison to thermistor (TH), during routine, clinical nocturnal polysomnography (NPSG). DESIGN We analyzed the respiratory arousal index (RAI) using TH (RAI-TH) or NC (RAI-NC) in patients with suspected sleep-disordered breathing (SDB). SETTING Sleep disorders center of a university-affili...

Antiphospholipid syndrome is characterized by arterial or venous thrombosis and the presence of antiphospholipid antibodies (aPL). We measured β2-GPI aCL, IgGaCL, LA, antiphosphatidyl-serine antibody (PS), and antiphosphatidyl-inositol antibody (PI) in each patient at one month after the onset of stroke. In addition, carotid artery echography was performed in patients positive for PI or PS. Amo...

We used isobaric mass tagging (iTRAQ) and lectin affinity capture mass spectrometry (MS)-based workflows for global analyses of parotid saliva (PS) and whole saliva (WS) samples obtained from patients diagnosed with primary Sjögren's Syndrome (pSS) who were enrolled in the Sjögren's International Collaborative Clinical Alliance (SICCA) as compared with two control groups. The iTRAQ analyses rev...

BACKGROUND In phase III clinical studies, treatment with teduglutide was associated with clinically meaningful reductions (≥20% from baseline) in parenteral support (PS; parenteral nutrition and/or intravenous fluids) requirements in adult patients with intestinal failure associated with short bowel syndrome (SBS-IF). This analysis reports clinical characteristics of patients who achieved compl...