Subject(s)
Ankyloglossia/diagnosis , Ankyloglossia/genetics , Collagen Type VII/genetics , Epidermolysis Bullosa/diagnosis , Epidermolysis Bullosa/genetics , Ankyloglossia/therapy , Biopsy , Diagnosis, Differential , Epidermolysis Bullosa/therapy , Humans , Infant, Newborn , Male , Mutation, MissenseSubject(s)
Craniofacial Dysostosis/diagnosis , Decompressive Craniectomy/methods , Orbit/surgery , Plastic Surgery Procedures/methods , Child , Child, Preschool , Craniofacial Dysostosis/physiopathology , Craniofacial Dysostosis/surgery , Follow-Up Studies , Gastrostomy , Humans , Infant , Interdisciplinary Communication , Male , Orbit/abnormalities , Referral and Consultation , Social Support , Tracheostomy , Ventriculoperitoneal ShuntSubject(s)
Anti-Bacterial Agents/therapeutic use , Infant, Newborn, Diseases/microbiology , Meningitis/diagnosis , Meningocele/microbiology , Methicillin-Resistant Staphylococcus aureus/isolation & purification , Nose Diseases/microbiology , Suction/adverse effects , Administration, Intravenous , Anti-Bacterial Agents/administration & dosage , Cefotaxime/administration & dosage , Clindamycin/administration & dosage , Craniotomy , Fever/etiology , Humans , Infant, Newborn , Infant, Newborn, Diseases/drug therapy , Magnetic Resonance Imaging , Male , Meningitis/drug therapy , Meningitis/microbiology , Meningitis/physiopathology , Nose Diseases/drug therapy , Nose Diseases/etiology , Suction/instrumentation , Treatment Outcome , Vancomycin/administration & dosageSubject(s)
Anti-HIV Agents/administration & dosage , Antiretroviral Therapy, Highly Active , HIV Infections/diagnosis , Rhabdomyolysis/virology , Acute Disease , Adolescent , CD4-CD8 Ratio , Directive Counseling , Emergency Service, Hospital , HIV Infections/complications , HIV Infections/drug therapy , Humans , Male , Rhabdomyolysis/complications , Rhabdomyolysis/drug therapy , Sexual Behavior , Viral LoadSubject(s)
Anti-Bacterial Agents/administration & dosage , Drug Resistance, Bacterial/drug effects , Fever/etiology , Hypotension/etiology , Lemierre Syndrome/diagnosis , Adolescent , Disease Progression , Female , Fever/diagnosis , Fever/drug therapy , Humans , Hypotension/diagnosis , Hypotension/drug therapy , Intensive Care Units, Pediatric , Lemierre Syndrome/complications , Lemierre Syndrome/drug therapy , Treatment OutcomeABSTRACT
Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.