ABSTRACT
Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, to review cases with 25-hydroxylase deficiency and describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from nine different families who presented with low 25-OH vitamin D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations. Thirteen out of 18 homozygous patients and all the heterozygous patients responded to high doses of vitamin D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. Five out of 18 homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G>A mutation required calcitriol treatment. To date, this is the largest cohort series analyzing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.
ABSTRACT
Rheumatic fever is a rare yet serious condition develop as a consequence of throat infection caused by Streptococcus pyogenes. It is the leading cause for rheumatic heart disease. Rheumatic heart disease is a worldwide public health concern. It is a chronic condition that results in carditis, irreversible valve damage and heart failure in children and young adults living in low-income countries. The age of onset peaks between 5 and 15 years. Approximately, 3% of patients with untreated acute streptococcal sore throats develop rheumatic fever. Rheumatic fever and rheumatic heart disease can be prevented with appropriate antibiotics administration to prevent the progression of valve damage. The current use of primary and secondary prevention antibiotics in Saudi Arabia is not known. Therefore, this clinical practice guideline is developed, based on the best available evidence, to promote appropriate antibiotics secondary prophylaxis use for prevention of rheumatic heart disease.
ABSTRACT
BACKGROUND: Since the medical record is the major source of health information, it is necessary to maintain accurate, comprehensive and properly coded patient data. We reviewed 300 medical records from patients at King Faisal Specialist Hospital and Research Center, representing four departments (medicine, surgery, pediatrics and obstetrics and gynecology). METHODS: The records were audited following the guidelines of the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for accuracy and completeness of documentation and coding of primary and secondary diagnoses and procedures performed. RESULTS: Of 1051 items abstracted, 876 (83.3%) were accurately documented, 41 (3.9%) were inaccurately documented, and 134 (12.7%) were not documented. Of the items abstracted, 736 (70%) were assigned a correct code, 110 (10.5%) were assigned an incorrect code, and 205 (19.5%) were not coded. More items classified as accurately documented were coded correctly (71.1%) than items inaccurately documented (49.7%) (P < 0.0001). The difference in comprehensiveness of documentation, which reflects physician performance, was not statistically significant among the four departments (P value < 0.234). The difference in the accuracy of coding, which reflects coder performance, was statistically significant (P value < 0.036). CONCLUSIONS: Only 60% of the audited records met the benchmark for good quality medical records with regards to documentation and coding. A positive correlation between the accurate documentation and correct coding was noted, which supports the conclusion that high quality documentation enhances coding accuracy. These data, although encouraging, suggest room for improvement, which can be achieved through the collaboration of clinicians, who have extensive clinical experience, and coding professionals, who have comprehensive classification system expertise.
