ABSTRACT
We developed an outpatient parenteral antibiotic therapy (OPAT) stewardship program in a freestanding children's hospital to improve the appropriateness of OPAT prescribing. Introduction of the program enabled expert review of nearly 90% of the patients being prepared for discharge with OPAT and was associated with a 24% reduction in OPAT use.
Subject(s)
Ambulatory Care/organization & administration , Anti-Bacterial Agents/therapeutic use , Antimicrobial Stewardship/organization & administration , Communicable Diseases/drug therapy , Hospitals, Pediatric/organization & administration , Administration, Intravenous , Anti-Bacterial Agents/administration & dosage , Humans , Patient Transfer , UtahABSTRACT
We report the second human case of Bartonella vinsonii subsp. berkhoffii endocarditis in a 19-year-old male with congenital heart disease. Diagnosis was established by Bartonella antibodies detected by immunofluorescence, and polymerase chain reaction amplification and sequencing from blood.
Subject(s)
Bartonella Infections/microbiology , Bartonella/isolation & purification , Endocarditis, Bacterial/microbiology , Heart Defects, Congenital/complications , Antibodies, Bacterial/blood , Bartonella/genetics , Bartonella/immunology , Humans , Male , Polymerase Chain Reaction/methods , Young AdultABSTRACT
PURPOSE: Maturity-onset diabetes of the young (MODY) is a subtype of type 2 diabetes characterized by autosomal-dominant inheritance and early onset. The pathophysiology of MODY is primarily defective insulin secretion resulting from mutations in at least 6 different genes. Most affected patients harbour mutations in either GCK (encoding glucokinase, also called MODY2) and HNF1A (encoding hepatic nuclear factor-1alpha, also called MODY3). We studied Canadian probands to determine if they had mutations in MODY2 or MODY3 genes. METHOD: We used genomic DNA sequencing of probands from 9 previously unreported Canadian MODY families. RESULTS: Five MODY probands had mutations in HNF1A, of which 4 were novel (namely IVS5-1delTAG, E275fsdelGAAG, F268S and L44fsdelC) and 4 had mutations in GCK, of which 2 were novel (E237K and L324P). These mutations expand the spectrum of MODY mutations and bring the total number of Canadian MODY families that have been molecularly defined in our laboratory to 15 (8 MODY3 and 7 MODY2). CONCLUSION: Because of the growing evidence that molecular diagnosis may affect prognosis and treatment, this information may be important in future for Canadian MODY families and their physicians.
Subject(s)
DNA-Binding Proteins/genetics , Diabetes Mellitus, Type 2/genetics , Mutation/genetics , Nuclear Proteins/genetics , Protein Serine-Threonine Kinases/genetics , Transcription Factors/genetics , Adolescent , Adult , Age of Onset , Canada/epidemiology , Child , DNA Mutational Analysis , Diabetes Mellitus, Type 2/epidemiology , Family Health , Female , Germinal Center Kinases , Hepatocyte Nuclear Factor 1 , Hepatocyte Nuclear Factor 1-alpha , Humans , MaleABSTRACT
OBJECTIVE: To compare phenylketonuria (PKU) management by a centralized, expert team in the Province of Nova Scotia (NS) with the decentralized approach in New Brunswick (NB). STUDY DESIGN: Retrospective chart review documented frequency of outpatient visits, phenylalanine (Phe) concentration, and medical formula use. Structured telephone interviews with the 8 regional NB dietitians (NB-D) documented their knowledge and support in PKU management. Patients with PKU (n=108; age, birth to 42 years) reside in NB (n=69) and NS (n=39). More were lost to contact in NB than in NS (9/69 vs 1/39) and more were completely off diet in NB than in NS (24/60 vs 1/38, P=.05). All 15 children <2 years old followed by a PKU team in either NS or Saint John, NB had optimal Phe levels. Children 2 to 12 years of age in NS had better Phe control and more medical visits than in NB (P <.01). Older patients had more episodes of elevated Phe levels (P=.01). Formula was dispensed in appropriate yearly amounts to 52% in NB and >95% in NS. Mental handicap or borderline intelligence was common in both NB (44%) and NS (42%). All NB-D wished additional specialized medical, nursing, or social work assistance. CONCLUSIONS: PKU management appears to be more effective with an expert, coordinated team approach.
Subject(s)
Models, Organizational , Outcome and Process Assessment, Health Care , Patient Care Team , Phenylketonurias/diet therapy , Primary Health Care/organization & administration , Adolescent , Adult , Age Factors , Canada/epidemiology , Child , Child, Preschool , Clinical Competence , Dietetics , Guideline Adherence , Humans , Infant , Infant, Newborn , Intellectual Disability/epidemiology , Intelligence Tests , Office Visits/statistics & numerical data , Patient Compliance/statistics & numerical data , Phenylalanine Hydroxylase/blood , Primary Health Care/statistics & numerical data , Retrospective StudiesABSTRACT
A 4.5-year-old boy presented with isosexual precocious puberty and an anterior mediastinal mass. Surgical resection demonstrated a teratoma with foci of malignant mixed germ cell tumor elements of polyembryoma. On further investigation he was found to have Klinefelter syndrome. Most mediastinal germ cell tumors are treated with adjuvant therapy. He was managed with surgical excision alone and is well at 2 years follow-up. The rationale for this approach is discussed.
