Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.

Familial glucocorticoid deficiency is caused by variants in the MC2R and MRAP genes. We report an Iranian patient with congenital glucocorticoid deficiency and cholestasis due to pathogenic variants in the MC2R gene. This is the first documented case of a patient with conditions. Clinical evaluations and lab assessments were conducted on a six-month-old male infant. Next-generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. The clinical presentation included prolonged jaundice, progressive skin hyperpigmentation, seizures, fever, and a large umbilical hernia. Two variants in the MC2R gene, c.560delT and c.676G > C, were detected and classified as pathogenic and likely pathogenic, respectively. The cooccurrence of cholestasis and glucocorticoid deficiency illustrates the clinical heterogeneity caused by MC2R variants. The prevalence of c.560delT and c.676G > C between Iranian populations suggests these variants may be common. The high frequency of c.560delT could be attributed to a founder effect.

Micronutrients in infants suffering from cow's milk allergy fed with dietary formulas and breast milk.

INTRODUCTION: Cow's milk allergy (CMA) is the most common food allergy in infants. As this food allergy indicates a wide range of clinical syndromes due to immunological reactions to cow's milk proteins, we aimed to evaluate the status of micronutrients in infants suffering from cow's milk allergy. METHODS: In this historical cohort study, infants with CMA were divided into two equal groups: breastfeeding and diet formula feeding. Data were gathered by a form, including the micronutrients such as iron, selenium, calcium, phosphorus, zinc, and vitamin D. Groups were compared and data were analyzed by the IBM SPSS version 21. RESULTS: This study involved 60 six-month-old infants, and the findings revealed no significant difference between the two groups concerning magnesium, phosphorus, zinc, and vitamin D. However, infants in the formula-feeding group exhibited significantly elevated mean serum levels of iron and selenium, whereas breastfed infants displayed higher levels of calcium. CONCLUSION: The findings of this research revealed a significant difference in calcium, selenium, and iron levels between formula-fed and breastfed infants, even though all variables were within the normal range for both groups. In light of these results, conducting further studies with a larger sample size and extended follow-up periods becomes imperative.

Evaluation of therapeutic effect of oral Ursodeoxycholic Acid on indirect hyperbilirubinemia in term neonates undergoing phototherapy: A randomized controlled clinical trial.

INTRODUCTION AND AIMS: Phototherapy is the most common treatment modality of neonatal hyperbilirubinemia. We aimed to evaluate the therapeutic effect of oral Ursodeoxycholic Acid (UDCA) on indirect hyperbilirubinemia in term neonates undergoing phototherapy. MATERIALS AND METHODS: This randomized controlled clinical trial was performed on 106 full-term neonates with jaundice who were admitted to the neonatal ward of 17 Shahrivar Hospital in Rasht, Iran. The neonates were randomly assigned to two groups of intervention (10 mg/kg UDCA+phototherapy) and control (phototherapy alone). Total serum bilirubin (TSB) was measured at the time of admission, during first 12, 24, and 48 hours after admission and at the time of discharge. The duration of hospitalization and side effects were also assessed in both groups. IBM SPSS Statistics for Windows, version 20 was used to analyze the data. RESULTS: Results showed that in the intervention group, 28 (52.8%) of neonates were boys with the mean age of 5.1±1.25 days. While, in the control group 29 (54.7%) of them were boys with the mean age of 5.19±2.26 days. Bilirubin levels in both groups decreased significantly after hospitalization (at 12, 24 and 48 hours) (P <0.001). The mean of bilirubin at 12, 24 and 48 hours in the intervention and control groups were 17.1, 13.2, 10.2 mg / dl and 17.1, 14.2 and 11.3 mg / dl, respectively. At the time of discharge, TSB in the former compared to the latter group was significantly reduced (7.74± 1.39 vs. 8.67±1.35) (P = 0.001). In addition, the duration of hospitalization was considerably shorter in the intervention compared to the control group (P = 0.038) and no side effects were observed. CONCLUSIONS: Administering UDCA plus phototherapy reduced TSB and length of hospital stay with proper safety and efficacy. Therefore, it seems that this combination can be an appropriate treatment modality in neonatal hyperbilirubinemia.

Simple Memorable Formulas for Screening Hypertension in Children: Based on the New American Academy of Pediatrics Guideline.

INTRODUCTION: Hypertension (HTN), also known as high blood pressure (BP), is a major global risk factor for cardiovascular and kidney diseases. Although annual BP screenings for children over three years of age are recommended, underdiagnosis of HTN in children is common. To address this issue, the American Academy of Pediatrics updated its guideline for screening and managing high BP in children in 2017, which can be cumbersome to implement in clinical practice due to the numerous cut-off points and tables. The purpose of our study is to design formulas to detect HTN in children based on the new Clinical Practice Guideline for screening and management of high BP in children and adolescents. METHODS: In this research, we analyzed forty-eight cut-off points using the 90th percentile systolic and diastolic BPs for the fifth percentile height. The final mathematical model consisted of four formulas based on different ages and sex which in turn were rounded by 0.1 and 1.0 for both systolic and diastolic BPs. The formulas were further modified to be lower than the 95th percentile systolic BPs for the fifth percentile of height to minimize false negative results. RESULTS: As evidenced by the tables included in this paper, except for a few exceptions, all rounded systolic and diastolic values for both sexes were equal to or lower than the 90th percentile. In a few cases where the cutoff points calculated by the formula were higher than the ones provided in the 2017 guideline, the differences were less than 2 mmHg. CONCLUSION: In this study to address the complexity of the routine guidelines, we present simplified formulas for screening children aged 1 to 12 years in figures and tables and recommend their use, particularly in office and emergency settings, as an easier-to-implement first step in screening for HTN in children.  DOI: 10.52547/ijkd.7525.

Effect of concurrent resistance-aerobic training on inflammatory factors and growth hormones in children with type 1 diabetes: a randomized controlled clinical trial.

BACKGROUND: Exercise training is a major factor in controlling type 1 diabetes mellitus (T1DM) in children. The present study aimed to assess the effect of concurrent resistance-aerobic training on selected inflammatory factors and hormones related to blood glucose homeostasis in children with T1DM. METHODS: In this randomized controlled clinical trial, 40 children (with the mean age of 11.11 ± 2.29 years) were randomly assigned to an experimental (N = 20) or control group (N = 20). They underwent a 16-week training program, composed of concurrent resistance-aerobic training performed intermittently for 60 min three times a week. Before and after training, blood samples were analyzed for glucose homeostasis, selected inflammatory factors, and growth factors. Data were analyzed by paired t-test and analysis of covariance (ANCOVA) in IBM SPSS version 22. RESULTS: The exercise training intervention reduced fasting blood sugar index (P = 0.002) and glycosylated hemoglobin significantly (P = 0.003). The growth hormone levels were increased significantly only in the experimental group (P = 0.037), whereas no significant difference was noted in the insulin-like growth factor-1 (P = 0.712). It was also found that interleukin-1ß and high-sensitivity C-reactive protein did not change in the experimental or control group as compared to the pretest (P > 0.05). CONCLUSION: As it was shown, it seems that concurrent resistance-aerobic training may improve blood glucose homeostasis and growth hormone. Therefore, these findings may suggest the benefit from exercise training of moderate intensity in children with T1DM. Besides, we recommend undertaking further clinical trials to determine if the exercise training was effective. TRIAL REGISTRATION: This study was registered in the Iranian Registry of Clinical Trials under the code IRCT20150531022498N30: https://en.irct.ir/trial/41031 . Registered on July 26, 2019. All experiments on the participants were following the Declaration of Helsinki.

The effect of physical activity level on the severity of diastolic dysfunction.

BACKGROUND: Diastolic dysfunction (DD) is a risk factor for cardiovascular events in patients undergoing non-cardiac surgeries. Investigators aimed to assess the effect of physical activity level on the diastolic function of the left ventricle (LV) in patients attending the preoperative visit. METHODS: This analytic cross-sectional study was conducted on 228 patients referred to Poursina hospital from November 2021 to March 2022. To define the physical activity level, we used the short form of the International Physical Activity Questionnaire (IPAQ). We categorized patients into inactive, minimally active, and health-enhancing physical activity groups. We also divided participants into three groups based on their daily sitting time. Also, echocardiographic parameters were calculated. The diastolic function of LV was evaluated, and its grading was defined from mild (grade1) to severe (grade 3). RESULTS: Results showed that patients with DD had significantly higher age and lower levels of education (P < 0.001 and P = 0.005, respectively). After assessing echocardiographic parameters, we found that E/e', TR Velocity, left atrial volume index, and pulmonary artery pressure had a statistically significant inverse relationship with physical activity level (P < 0.001 for all). Comparing physical activity level of subgroups showed that in HEPA (health-enhancing physical activity), the chance of developing grade 2 or 3 DD was reduced by 97% compared to the inactive group (OR = 0.03, P < 0.001). Still, there was no significant difference between the inactive and minimally active groups (P = 0.223). CONCLUSIONS: This study showed an inverse relationship between physical activity level and DD of the LV in a sample of 228 individuals attending the Anesthesia Clinic, independent of potentially confounding variables.Therefore, due to lower rate of DD in patients who are physically active, we can expect lower occurrence rate of cardiovascular events during surgery.

The Effect of Probiotics on Headaches in Children with Migraine Treated with Sodium Valproate: A Randomized Controlled Clinical Trial.

Objective: Migraine is one of the most common complaints in children. This study aimed to determine the effect of probiotics (KidiLact) on headaches in children aged six to 15 years with migraine treated with sodium valproate. Materials & Methods: This double-blind, randomized controlled clinical trial was performed on eighty children with migraine treated with sodium valproate. Patients were divided into two groups. All patients in the intervention and control groups received two sachets of probiotics and a placebo daily for four months, respectively. They were compared in terms of frequency and severity of headaches and painkiller consumption before and two and four months after initiating probiotics. Results: The mean number of headaches in the second and third visits in the probiotic group was 1.27 and 1.18, and 2 and 1.50 per month in the placebo group, respectively. The authors observed a significant difference between the two groups in the second (P = 0.010) and the third visit (P = 0.019). Moreover, the mean severity of headache in the second and third visits in the probiotic group was 1.38 and 1.23, and 1.60 and 1.53 in the placebo group, respectively. The authors demonstrated that the daily consumption of painkillers in the probiotic group was significantly reduced compared to the placebo group (P = 0.007). Conclusion: Using probiotic supplements seems to significantly affect the severity and frequency of migraine headaches compared to the placebo, and daily consumption of painkillers was significantly reduced in the probiotic group compared to the placebo group.

Pseudotumor Cerebri Presenting by Neck Rigidity and Torticollis.

Pseudotumor cerebri syndrome (PTCS) is an uncommon disease in children. On-time diagnosis and treatment can prevent irreversible visual loss. Although headache is the most common complaint of children with this syndrome, the present case report reported a child with neck rigidity and torticollis, declined by the reduction of intracranial pressure. Despite the importance of torticollis and neck rigidity presented in various significant neurological disorders in need of thorough investigations, in the case of unexplained symptoms of those disorders, it is recommended to consider fundoscopic examinations for PTCS to prevent its vital complications.

Association Between Poor Sleep Quality and Glycemic Control in Adult Patients with Diabetes Referred to Endocrinology Clinic of Guilan: A Cross-sectional Study.

Background: Diabetes is a prevalent chronic medical comorbid condition worldwide. Diabetes mellitus is associated with various sleep disorders. Objectives: We aimed to determine the prevalence of poor sleep and the main factors of sleep interruptions in patients with diabetes mellitus. We further evaluated the association of sleep interruptions with glycemic control in this cohort. Methods: We conducted a cross-sectional study on 266 patients with type 1 and type 2 diabetes recruited from a university outpatient endocrinology clinic. Patients completed a checklist including demographic and disease-related characteristics in addition to the Pittsburgh Sleep Quality Index (PSQI) to evaluate sleep quality. Using the PSQI cutoff score of 5, we created two subgroups of good sleepers (GS) and poor sleepers (PS). Results: Our results showed that good sleeper and poor sleeper patients with diabetes were significantly different regarding sex, employment status, BMI, presence of diabetes-related complications, HbA1c, and 2-hour postprandial blood sugar (2HPPBS) (all significant at P < 0.05). The most prevalent factors of sleep interruptions were "waking up to use a bathroom", "feeling hot", "pain", "having coughs or snores", and "bad dreams". Among the subjective factors of sleep interruption, problems with sleep initiation, maintenance, or early morning awakenings in addition to having pain or respiratory problems such as coughing or snoring had the most significant associations with HbA1c. Conclusions: Our study showed significant subjective sleep disturbances (both quality and quantity) in patients with diabetes mellitus (both type I and II) and its association with diabetes control. We further identified the main factors that led to sleep interruptions in this cohort.

Dermoscopic Findings of Alopecia in Patients with Hypothyroidism.

Background: Thyroid hormones are essential for the growth and maintenance of hair follicles. Numerous studies have evaluated the relationship between thyroid disorders and hair loss. However, no study has assessed the dermoscopic results in patients with hypothyroidism and hair loss. Objectives: This study aimed to investigate dermoscopic findings of alopecia in patients with hypothyroidism. Methods: This analytic cross-sectional study was performed on patients with hair loss referred to dermatology clinics of Guilan University of Medical Sciences, Iran. Hypothyroid patients and an equal number of euthyroid individuals were compared. After recording the demographic and clinical characteristics, all patients were subjected to hair dermoscopy. Results: A total of 164 patients with and without hypothyroidism with hair loss were studied. The frequency of hair shaft abnormalities (P < 0.001) and vellus hair (P < 0.001) significantly differed between the two groups. Dermoscopic findings related to scale abnormalities (P = 0.002) and their perifollicular type (P < 0.001) significantly differed between the groups. Vascular changes (P < 0.001), perifollicular concentric type (P = 0.012), and interfollicular red loops type (P = 0.005) were significantly higher in patients with hypothyroidism. Also, based on the multiple logistic regression model, the chance of abnormalities of the hair shaft, scales, and vascular changes increased by 3.24, 2.73, and 3.53, respectively, in hypothyroidism compared to euthyroidism. Conclusions: Regarding the promising results of this study, we could detect possible dermoscopic signs of inflammation in hypothyroid patients with hair loss. Further investigations are needed because there is a shortage of evidence on this novel diagnostic method.

Developmental Status of Five-Year-old Children with Very-Low-Birth-Weight.

OBJECTIVE: Some previous studies have reported the improved survival of very-low-birth-weight (VLBW) neonates with no disabilities. However, 16% of these neonates have developmental disorders. Considering the lack of research on the developmental status of five-year-old VLBW children and the importance of early detection and treatment, in this study, we aimed to assess the developmental status of five-year-old VLBW children. MATERIALS & METHODS: This historical cohort study was conducted on five-year-old children. The participants were divided into VLBW and normal-birth-weight (NBW) groups. Data were gathered using the Ages and Stages Questionnaire (ASQ). This questionnaire consisted of five developmental domains, including communication, gross motor, fine motor, problem-solving, and personal/social skills. Data were reported by measuring descriptive statistics, including mean, standard deviation, number, and percentage, and analyzed by Mann-Whitney U test and independent t-test in SPSS version 22. RESULTS: A total of 106 five-year-old children, including two groups of VLBW and NBW, participated in this study. The results of Mann-Whitney U test showed a significant difference between the groups regarding the scores of communication (P=0.002), gross motor (P<0.001), fine motor (P<0.001), and problem-solving (P<0.001) skills. However, no significant difference was found between the groups regarding the personal/social developmental status (P=0.559). CONCLUSION: According to the results, a higher risk of developmental delay was observed in VLBW infants as compared to NBW neonates; therefore, it is recommended to perform developmental screening tests for timely detection of high-risk children and early diagnostic and therapeutic interventions.

The Association Between Hemoglobin HbA1c with Serum Inorganic Phosphate in Children with Type 1 Diabetes.

BACKGROUND: Diabetes mellitus is one of the most common chronic metabolic diseases in children and adolescents, which changes the cellular metabolism. Phosphorus is an essential element for metabolism. Early in the progression of diabetes, a paradoxical metabolic imbalance in inorganic phosphate (Pi) occurs that may lead to reduced high energy phosphate and tissue hypoxia. While low and high uncontrolled blood sugars can be easily recognized by clinical symptoms, low and high plasma inorganic phosphate remain unrecognizable. Therefore, we aimed to assess the association between hemoglobin A1c (HbA1c) with serum inorganic phosphate in children with type 1 diabetes. MATERIALS AND METHODS: This cross-sectional study was conducted on 102 patients selected from a pediatric ward in 17th Shahrivar hospital in Rasht, North of Iran. Clinical data including age, sex, height, weight, BMI, duration of diabetes, the level of HbA1c, and phosphorus were gathered. The level of HbA1c was adjusted by age in the final analysis. RESULTS: The mean age of samples was 9.98±3.91 years old and 46 participants (45.1%) were male. It was found that HbA1c had a reversed and significant relationship with BMI (r=-0.215 and P=0.03), but there was no correlation between phosphate, age, height and weight, duration of diabetes mellitus, or rate of insulin consumption with HbA1c (P>0.05). CONCLUSION: The finding showed that HbA1c had a reversed relationship with BMI but there was no correlation between phosphate and HbA1c.

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male.

Deficiency of the 5-alpha-reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.

Is There Any Need for Emergency Neuroimaging in Children With first Complex Febrile Seizure?

OBJECTIVES: The current study aimed to assess the need for emergency neuroimaging in children with first CFC. MATERIALS AND METHODS: This is an analytic cross-sectional study conducted on children aged 6-60 months with first CFC. Data were gathered by a form that evaluates age, sex, imaging type, body temperature, and the duration of fever before convulsion, the duration and frequency of convulsion, and family history of FC. Data were analyzed via the Fisher Exact Test in SPSS version 19. RESULTS: A total of 111 patients participated in this study with first CFC and mean age of 21.18±11.83 months. Regarding the type of CFC, the results showed that the highest and lowest frequencies belonged to multiple and multiple focal prolonged FC, respectively. Upper respiratory infection was the most common diagnosis. Also, 2 nonsignificant abnormal neuroimaging results were noted. CONCLUSION: Performing emergency neuroimaging in patients with first CFC was not mandatory in the absence of developmental disorders, abnormal neurologic examination, underlying neurological disorder, and head trauma. This is an important result in our country due to the lack of access to neuroimaging modalities in many hospitals, and the irradiation risk in childhood and its high cost.

The importance of depression during pregnancy.

OBJECTIVE: Today, the high prevalence of depression is one of the major health problems of pregnant women. This study aimed to assess the relationship between antenatal depression, pregnancy and neonatal outcomes. METHODS: This cohort study involved 394 pregnant women referred to the prenatal care clinic at the Al- Zahra Hospital, affiliated to Guilan University of Medical Sciences, Iran. We used a convenient method for sampling. We collected data using questionnaires on demographic and obstetric characteristics, the CES-D scale for depression evaluation and a checklist for recording pregnancy outcomes. RESULTS: According to the results, preeclampsia, premature membrane rupture, preterm delivery, cesarean section, intrauterine fetal death, and intrauterine fetal growth restriction were higher among mothers with depression during their pregnancies, compared to those who did not have depression. In addition, the mean birth weights of depressed mothers' infants were lower than the infants of mothers who did not have depression. CONCLUSION: Results from the present study showed that depression during pregnancy is associated with pregnancy and neonatal outcomes. Healthcare planners and mental health counselors should regard screening mothers with risk of depression and following them up and, in the necessary cases, referring to psychiatrists.

Assessment of Medical Student's Skill for Pediatric Blood Pressure Measurement.

INTRODUCTION: The main reason for this study is regarding the importance of correct estimation, which can consequently decreases the risk of under or over estimation. METHODS: This was an observational analytic cross-sectional study. An online data collection tool "Google Form" was used to gather personal information and self-assessment score. RESULTS: From the 121 participants, the majority of them (76) were women. Most of the participants (33.9%) were seventh-year medical students. The results of this study showed that 100% of the participants believed that they possessed the skillset to measure BP correctly with an average self-assessment score of 8.20 ± 1.05. However, the mean total score for the participants was 3.69 ± 1.59, with only two of the participants scoring as high as 7. CONCLUSION: The majority of participants attained low average score of correct blood pressure measurements. However, they noted high self-assessment scores before conducting the study. This disparity between reported results may show and emphasizes the importance of considering these 11 tips in the BP training courses.

Platelet Indices Alterations in Children With Type 1 Diabetes Mellitus.

Platelet (PLT) hyperactivity is a key factor which contributes to cardiovascular complications in patients with type 2 diabetes mellitus even in preclinical stages of disease. To the best of our knowledge, there is limited researches in this regard among patients with type 1 diabetes. The aim of this study was to evaluate hematologic indices indicating PLT activity in children with type 1 diabetes. This was a case-control study which was conducted on 166 inpatients in 17 Shahrivar children hospital, Rasht, Iran during April 2016 to April 2017. Cases and controls were 83 children with type 1 diabetes mellitus and 83 children hospitalized for thorough assessment of short stature, respectively. Groups were matched for age and sex. Demographic characteristics and hematologic variables were assessed. The Shapiro-Wilk test was used to determine the normality of the distribution. Results for continuous and categorical variables were demonstrated as mean±SD and number and percent, respectively. Continuous variables without normal distribution were demonstrated as median (interquartile range). The χ/Fisher's exact test was used to compare categorical variables. The normal and non-normal distributed quantitative variables were respectively assessed by independent T-test or Mann-Whitney U test. P-value <0.05 noted statistical significance. The median (interquartile range) age of all children was 10 (6 to 13) years old. Thirty-five (42.2) of patients with diabetes and 35 (42.2) of control group were male individuals. There were positive correlation between age (r=0.370; P=0.001), hemoglobin (r=0.278; P=0.009), blood sugar (r=0.243; P=0.027), PLT distribution width (r=0.229; P=0.038), plateletcrit (PCT) (r=0.290; P=0.008), PLT to lymphocyte ratio (r=0.230; P=0.037) and glycosylated hemoglobin in children with diabetes. The cut-off point of PCT was 0.19 (sensitivity=87.8%, specificity=66.7%). Only increased PCT (>0.19) was related with poor metabolic control and can put the patients to the risk of future cardiovascular events. The authors recommend considering multiple PLT parameters, and not just one of them, and even designing a scoring system in terms of PLT parameters for type 1 diabetes mellitus management programs.

Risk Factors of Febrile Status Epilepticus.

OBJECTIVE: We aimed to investigate the risk factors of febrile status epilepticus (FSE) in children. MATERIALS & METHODS: This analytic case-control study was conducted on all patients' records with first febrile seizure (FS) admitted to 17 Shahrivar Hospital, Rasht, Iran during 2007-2014. Cases were children aged 6 to 60 months with FSE and controls were children with complex and simple FS. Data were gathered using a checklist including age, sex, type of milk consuming during first year, temperature, the interval between fever and seizure, family history of epilepsy and febrile seizure, and prematurity. Data were analyzed using Chi-square in SPSS 19. RESULTS: Overall, 756 patients with FS participated including 39 patients with FSE, 194 complex febrile seizure (CFC) and 523 simple febrile seizure (SFC). Most of the patients (57.8%) experienced seizure with low-grade fever (<39 °C). The mean age in SFC group was significantly higher than FSE patients (P<0.05). A significant relation was noted between groups regarding body temperature during seizure (P=0.006), family history of FS (0.029), family history of epilepsy (P=0.042) and the premature birth (P=0.023). Significant relation was noted between FSE and CFC groups regarding body temperature during seizure (P=0.004), family history of FS (0.011), family history of epilepsy (P=0.037), and the premature birth (P=0.025) between FSE and CFC groups. CONCLUSION: Considering risk factors of FSE including low body temperature, lower age, family history of FS and epilepsy, and premature birth is mandatory.

Assessment of Serum Folic Acid and Homocysteine in Thalassemia Major Patients Before and After Folic Acid Supplement Cessation.

BACKGROUND: Thalassemic patients have ineffective erythropoiesis. In recent treatment protocols, there are little data on folic acid supplementation for patients with thalassemia because it is supposed that regular blood transfusions prevent bone marrow hyperfunctioning. OBJECTIVE: Investigators aimed to assess serum folic acid and homocysteine (Hcy) in thalassemia major patients before and after folic acid supplement cessation. PATIENTS AND METHODS: This study was a before-after controlled clinical trial conducted in 17th Shahrivar Hospital, Rasht, North of Iran, during May to October 2016. The patients enrolled in this study had thalassemia major on regular blood transfusion and older than 2 years of age. They had at least a 6-month history of folic acid supplement consumption before enrollment in the study (1 mg/daily). Complete blood count, serum folic acid, and serum Hcy were measured before discontinuation of folic acid supplement. Then, patients did not receive folic acid for a month and after 1 month of folic acid cessation, the measurements were repeated. All data were entered in SPSS version 20.0 and analyzed. RESULTS: Among the 40 patients in this study, 25 (62.5%) were female. The mean age of the participants was 21.39±11.17 years old. The mean of body mass index was 21.38±3.32 kg/m. Most of the participants had used folic acid supplement >5 years (29, 72.5%). The serum Hcy level was significantly increased (5.24±2.35 vs. 5.93±2.56; P=0.008) and serum folic acid level was decreased significantly (14.74±4.20 vs. 8.80±4.16; P<0.0001) from baseline. CONCLUSIONS: Cessation of folic acid supplementations in beta thalassemia major patients can lead to a significant decrease in serum folic acid and increase in Hcy levels. According to our findings and efficacy of folic acid in patients with beta thalassemia major, it is recommended to use the supplementation in all patients.

The Value of Technetium-99m Labeled Alpha-Melanocyte-Stimulating Hormone (99mTc-α-MSH) in Diagnosis of Primary and Metastatic Lesions of Malignant Melanoma.

OBJECTIVES: Malignant melanoma is the most lethal type of skin cancers with unfavorable prognosis. Alpha-MSH peptide analogues have a high affinity for melanocortine-1 (MC1) receptors on melanocytes over expressing in malignant melanoma cells. Pre-clinical studies have shown promising results for radiolabeled MSH imaging in this malignancy. The purpose of this study is to assess the diagnostic value of 99mTc-α-MSH imaging in malignant melanoma. METHODS: Twenty-one patients (13 men) with pathologically confirmed malignant melanoma with or without metastatic distribution were included in this study. 740-1110 MBq 99mTc-α-MSH was injected and whole body scans were performed 20, 120 and 240 minutes post injection and were assessed both qualitatively and semi-quantitatively using target (T) to background (BG) ratio. RESULTS: The T/BG ratio for the primary tumor bed was 2.51±2.26, 2.56±2.48 and 1.92±1.79 minutes in the whole body scans 20, 120 and 240 minutes post injection, respectively. The sensitivity, specificity, negative and positive predictive values were 75%, 80%, 50% and 92% for primary lesion and 25%, 100%, 68% and 100% for distant metastasis, respectively. CONCLUSION: 99mTc-α-MSH is a newly introduced agent for diagnosis of tumoral lesions in malignant melanoma. Our study showed a high sensitivity with this modality in primary lesions as well as lymph node involvements. However the detection rate was not high in distant metastasis. The preliminary results are promising especially as a new complementary imaging method in management of malignant melanoma.