Growth and endocrinopathies among children with ß-Thalassemia major treated at Dubai Thalassemia centre.

BACKGROUND: ß-Thalassemia major (BTM) is one of the most common hereditary anemias worldwide. Patients suffer from iron overload that results from repeated blood transfusion This in turn leads to multiple organ damage and endocrinopathies. This study aims to assess the prevalence of growth retardation, hypothyroidism, and diabetes mellitus in children and adolescents with BTM treated at Dubai Thalassemia Centre. METHODS: A total of 105 children and adolescents were included in this retrospective observational study. RESULTS: 39 children and 66 adolescents' data were analyzed. Females composed 51.3% (n = 20) of children and 53.0% (n = 35) of adolescents. Pretransfusion hemoglobin below 9 gm/dl was observed in 10.8% (n = 4) and 10.6% (n = 7) in children and adolescents, respectively. The mean age of menarche was 13.5 years. Among all study participants, 22.6% (n = 14) had normal height velocity whereas 37.1% (n = 23) had reduced height velocity in one year and 40.3% (n = 25) had reduced height velocity in two consecutive years. The proportion of children and adolescents showing reduced height velocity was significantly higher in females compared to the males (90.6% versus 63.3%, respectively, Chi-square = 6.597, p-value = 0.010). Although none of the study participants had diabetes mellitus, 26.1% (n = 12/46) had pre-diabetes. Elevated TSH was observed in 14.7% (n = 5) children and 8.1% (n = 5) adolescents while low FT4 was reported in one child and one adolescent. CONCLUSION: Of all endocrinopathies seen among children and adolescents with BTM, growth delay remains the main concern for this group of patients. Effective treatment is key to further reducing endocrinopathies. Although the sample size is limited, we postulate that the low percentage of endocrinopathies among children with BTM treated at Dubai thalassemia center and the low level of pretransfusion anemia reflect the effective transfusion and chelation at the center.

Cerebral folate deficiency: A report of two affected siblings.

Cerebral folate deficiency (CFD) is a rare progressive neurological condition characterized by normal blood folate level and low 5-methyltetrahydrofolate (5-MTHF) levels in the cerebrospinal fluid. Patients present with different neurological findings including hypotonia and microcephaly. Later, patients develop ataxia, seizures, para or quadri-plagia. Herein, we report two siblings; born to consanguineous parents; who had normal neurological development in early childhood. Subsequently they developed drug-resistant seizures, neurological regression, and spastic quadriplegia. After thorough investigations patients had brain MRI which showed abnormal white matter signals and ventricular dilatation, CSF with low 5-MTHF, and whole exome sequencing (WES) revealed a novel homozygous variant in FOLR1 (c.245A > G; p.Tyr82Cys) consistent with the diagnosis of cerebral folate deficiency. They were treated with folinic acid in addition to standard anti-seizure medications. WES aids in reaching CFD diagnosis due to FOLR1 pathogenic variants. These results can be used for future counselling to prevent recurrence in future pregnancies by preimplantation genetic testing prior to implanting the embryo in the uterus. Treatment with folinic acid was shown to improve the neurological symptoms namely reduced the seizures and spasticity.

Surgical management of pediatric eye injuries.

BACKGROUND: Eye injury is a leading cause of unilateral childhood blindness. The purpose of this research was to study the management and visual outcome of pediatric eye injuries necessitating hospitalization and surgical repair. MATERIALS AND METHODS: This is a retrospective study of children having eye injury that needed surgical repair over the period of 2012 and 2017. Demographic data, place of occurrence, activity at the time of injury, place and cause of injury, presenting signs, surgical interventions, visual acuity (VA) before and after surgery, and causes for vision limitations were studied. RESULTS: Thirty-nine eyes of children were surgically treated. The mean (range) age of the patients was 3 years (1-15 years). Nearly 61.5% were males. Almost 80% of injuries occurred at home and while playing (71.8%). Trauma with sharp objects (35.8%) was the most common cause of injury. Majority presented to the hospital in <6 h (89%), mainly with eye pain (95%). Corneal laceration (53.8%), traumatic cataract (15.3%), and foreign body (15.3%) were the most common clinical findings. Twenty-one (53.8%) eyes sustained open-globe injuries. Fifteen percent had vision of 20/200 or worse at follow-up. The VA improved significantly at follow-up (P < 0.05). The major cause of vision limitation was the cornea (33%). CONCLUSIONS: Eye injury is a major cause of vision loss in children. Despite early presentation to our hospital and prompt interventions, significant number of our pediatric patients sustained limited VA in ruptured globe injuries.

Relationships and boundaries: Learning needs and preferences in clerkship medical environments.

PURPOSE: Relationship boundaries recognition is an essential element of medical practice. The aim of the study was to assess final year medical students' perceived need for education regarding professional boundaries. MATERIALS AND METHODS: This was a cross-sectional study. An anonymous paper questionnaire was distributed to 128 final year medical students. Standard descriptive statistics, unpaired t-test to evaluate differences between male and female groups and Pearson correlation to determine relationships between variables were used. RESULTS: The survey was completed by 84.4% of students who identified the need for more emphasis in the curriculum for all of topics during training and practice pertaining to boundaries and relationships (mean 6.61±1.32 on a scale of 0 to 9; and 6.66±1.27 respectively). Topics with a high interest ranking requiring additional attention were mistreatment of medical students (mean 7.22±1.96), coping with mistakes in clinical care (mean 7.25±1.63), reporting of medical mistakes (mean 7.58±1.36), and gender bias in clinical care (mean 7.10±1.82). Women perceived a greater need for attention to all topics in the curriculum. Significant differences between the perceptions of female and male students were observed regarding topics such as responding to an impaired colleague (p<0.001), and a physician's social responsibilities (p = 0.001). CONCLUSION: Medical students recognized the need for more education and training in the undergraduate medical ethics curriculum regarding patient-physician relationship boundaries.

Informed consent learning: Needs and preferences in medical clerkship environments.

PURPOSE: Limited information exists regarding students' routine educational needs in support of ethics and professionalism practices faced in real clinical practice. As such the authors aimed to explore medical students learning needs and preferences for informed consent and relevant ethical issues in the clerkship environments. MATERIALS AND METHODS: A cross-sectional study using a self-administered, printed survey distributed to final year clinical clerks. RESULTS: 84% completed the survey. Students indicated the need for more attention to all topics related to informed consent (mean = 7.1 on a scale of 0 to 9; ±1.2). Most additional instructional attention was requested for topics raised in discussions with patients concerning the risks, benefits and alternatives to recommended treatments (7.3 ±1.4). The cohort expressed the need for education in the care of vulnerable patients (7.2 ±1.2) with a maximum score for the care of abused children. Women perceived greater need for education concerning informed consent than male respondents (p>0.05). There were significant differences between students who scored high or low on the item "being treated in professional manner" and "endorsement of educational needs for care of adolescents" (p = 0.05). CONCLUSION: There was heightened perception among final year medical students of the need for greater attention to be paid to informed consent education.