RESUMEN
The present meta-analysis was conducted to determine the efficacy of hydroxyurea in patients with transfusion dependent major ß-thalassemia. The present meta-analysis was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analyses of Observational Studies in Epidemiology (MOOSE) guidelines. A systematic search was carried out to evaluate the efficacy of hydroxyurea in patients with transfusion-dependent B-thalassaemia using electronic databases, including MEDLINE, Cochrane Central Register of Controlled Trials, and EMBASE. The keywords used to search for relevant studies included "hydroxyurea", "thalassemia", "transfusion-dependent", and "efficacy". Outcomes assessed in the present meta-analysis included transfusion in one year and intervals between transfusions (in days). Other outcomes assessed in the present meta-analysis were fetal hemoglobin (%), hemoglobin (%), and ferritin levels (ng/dl). Total of five studies were included in the analysis enrolling 294 patients with major B-thalassemia. The pooled analysis reported that the mean interval between transfusions was significantly higher in patients receiving hydroxyurea compared to those not receiving hydroxyurea (mean deviation {MD}: 10.07, 95% CI: 2.16, 17.99). Hemoglobin was significantly higher in patients receiving hydroxyurea compared to its counterparts (MD: 1.71, 95% CI: 0.84, 2.57). Patients receiving hydroxyurea had significantly lower ferritin levels compared to those not receiving hydroxyurea (MD: -299.65, 95% CI: -518.35, -80.96). These findings suggest that hydroxyurea may be a promising and cost-effective alternative to blood transfusions and iron chelation therapies for beta-thalassemia patients. However, the authors noted that further randomized controlled trials are needed to validate these findings and to determine the optimal dosages and treatment regimens for hydroxyurea in this patient population.
RESUMEN
Rickets is a childhood disorder of vitamin D deficiency that is characterized by growth retardation and impairment in skeletal mineralization. Vitamin D deficiency is usually due to decreased dietary vitamin D intake, decreased sunlight exposure, or genetic defects. A recurrent gain-of-function missense mutation (p.I301T) in the gene encoding CYP3A4 has been identified as a cause of excessive inactivation of vitamin D metabolites that causes vitamin D-dependent rickets type 3 (VDDR3). We hereby report a case of a six-year-old girl with poor growth and bone deformities, such as genu valgum. In addition, the patient has a strong family history of short stature and bone deformities. She continues to receive multidisciplinary care, and the finding of a heterozygous missense variant in CYP3A4: c.902 T > C; p.Ile301Thr in the CYP3A4 gene confirms the diagnosis of VDDR3. To our knowledge, this is the first case to be reported in Saudi Arabia and the fourth case in the literature. Our findings highlight the importance of vitamin D in those with high activity in CYP3A4 to maintain vitamin D hemostasis, and we need to reach optimal doses to help them maintain their biochemical and radiological finding within the normal range.
RESUMEN
Mycophenolic acid [MPA] is a powerful inhibitor of lymphocyte proliferation. Although this drug has been used across the globe for various maternal comorbidities, multiple concerns have been raised regarding its teratogenic effects. The Food and Drug Administration has changed its category to drug category D (evidence of fetal risk) in 2007. A wide range of congenital malformations in infants born to a mother using this medication have been described in the literature, but there is no specific set pattern of these malformations. We report a case of a female infant who had exposure to mycophenolate by maternal use during the initial phase of 1st trimester of her pregnancy and ended up having multiple congenital malformations. She was managed with multidisciplinary approach and was finally discharged home on respiratory support, after two months of hospital stay. The fact that our patient shared a pattern of congenital malformations with other reported cases who were exposed to mycophenolate in utero strongly suggests that mycophenolate had a causal role and that there might be an emerging fetal mycophenolate mofetil syndrome (FMMS).
RESUMEN
BACKGROUND: The second-to-fourth digit ratio is measured by dividing the length of the index finger by the length of the ring finger. A ratio <1 means that the ring finger is longer; this is known as the male pattern or "A" pattern. A ratio >1 means that the index finger is longer; this is known as the female pattern or "C" pattern. When both fingers are equal in length (ratio = 1), the pattern is labeled as "B" pattern; this may be seen in both sexes. None of the previously reported studies on this topic were reported in the plastic or hand surgery literature. Our aim is to increase the awareness of plastic and hand surgeons to these types of hand patterns and to correlate such patterns to sex, body mass index (BMI), and physical activity in a group of healthy medical students and interns. METHODS: We conducted a cross-sectional study on 160 healthy medical students/interns. There were 82 females and 78 males between the ages of 20 and 30. A male pattern (pattern A) was defined as pattern A in both hands or pattern A in one hand and pattern B in the other hand. A female pattern (pattern C) was defined as pattern C in both hands or pattern C in one hand and pattern B in the other hand. The correlation between hand pattern and sex, BMI, and physical activity was done using the chi-square test and Fisher's exact test. A P value of <0.05 was considered statistically significant. RESULTS: Five participants (3.1%) had pattern B in both hands. Another 15 participants (9.4%) had a male pattern in one hand and a female pattern in the other hand. Both of these groups were excluded from the statistical analysis. Pattern A was significantly higher in males, and pattern C was significantly higher in females (P < 0.001). BMI and physical activity did not significantly affect the hand pattern in males. However, the correlations between hand pattern and both BMI and physical activity were significant in females (P = 0.005 for BMI) (P = 0.042 for physical activity). CONCLUSIONS: About 12.5% of the study group did not fit into a male or female pattern. In the remaining 87.5% of the participants, sex correlated with hand pattern. BMI and physical activity significantly affected the hand pattern in females. We believe that our study will encourage plastic surgeons to further investigate the correlation of different hands patterns to other variables of interest in plastic surgery such as masculine facial anthropometric values, hypoplastic breasts, gynecomastia, and lipodystrophy.
