A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Variegate Porphyria (VP) is an inherited rare disorder that is caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which, in turn, can potentially result in a variety of skin and neurological symptoms. Here, we reported a 7-year-old boy with homozygous VP and novel mutation on PPOX gene. He was admitted with three episodes of generalized tonic-clonic seizure in the last 6 months. He was presented with lesions, hyperpigmentation, fragility, and blistering of sun-exposed skin. The weakness of limbs and brachydactyly were observed. In the follow-up, he had aggressive behavior, learning disability and abdominal pain, particularly around the navel. Eventually, the whole exome sequencing (WES) result reported a novel homozygous pathogenic variant (c.1072G > A p.G358R) in PPOX gene which confirmed the VP. He had been advised to be away from the sun and use sunscreen regularly.

A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report.

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chain fatty acids oxidation. Here, we reported a 10-year-old boy with bilateral hearing loss and a myopathic form of CPT II deficiency, which was confirmed by a molecular genetic test. He was admitted to our hospital with unexplained headaches, vomiting, and fever. Furthermore, he developed seizures, muscle weakness, neck stiffness and pain, mild respiratory distress, and an icteric appearance. The laboratory test results also showed severely elevated lactate dehydrogenase levels (LDH) and creatine phosphokinase (CPK) levels. He also had an icteric appearance with unexplained indirect hyperbilirubinemia. Further examinations revealed a normal heart and liver without any neurological disorders. Muscle pathological examination reported normal pathology without neuromuscular and mitochondrial disorders and storage diseases. Finally, molecular test analysis with next-generation sequencing (NGS) revealed CPT-II deficiency fatty acid oxidation disorder. Furthermore, we identified a homozygous pathogenic variant in the ADGRV1 gene, c.15736C>T p. (Arg5246*), which suggests the Usher syndrome type 2C and the reason for sensorineural hearing loss in this case. Our finding indicates that CPT-II can be associated with multiple symptoms and clinical features. Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness, and rhabdomyolysis.

Lessons from Ten Years' the Prevalence of Congenital Rubella Syndrome (CRS) in the Young Population Living in a Developing Country, Tehran; Iran.

BACKGROUND: A safe and effective rubella vaccine is available and prescribed in IRAN. OBJECTIVE: This is a survey of CRS cases collected based on WHO criteria one decade after the MR vaccination campaign (2003). METHODS: This Multi-stage prospective/cross-sectional study was carried out in three stages in 3 educational hospitals in Tehran (Rasoul Aram, Akbar Abadi, and Firoozabadi), In the first stage of the study between 2011 and 2012 total of 186 infants were evaluated, and in the second stage of the study, total 163 blood samples of infants with suspected INTRA UTERINE INFECTION were compared with a group of healthy matched infants. In the first and second stages, Rubella immunity (IgG&IgM) in cord blood was evaluated by the Eliza method. RESULTS: Despite MR vaccination in Iran, after one decade"confirmed CRS" and " compatible CRS" was diagnosed in 5 and 31 from 89 CRS suspected cases. CONCLUSION: The incidence of "confirmed CRS" in every 100 CRS suspected infants (after campaign) is 5.6 %, and 31 CRS Compatible cases are so important. Without active CRS surveillance, mild infection such as IUGR, hearing loss, heart abnormalities, impaired vision, and mental retardation even in the developed country might be missed. Fetal infection is persistent, which imposes additional costs on the country. Another mass vaccination in women and girls is needed. Also, the anti-rubella IgG testing before pregnancy in women who were not vaccinated; vaccination of women before marriage /pregnancy should be obligatory in order to prevent the CRS.

Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases.

This is a case report of Methenyl Tetrahydrofolate synthetase deficiency (MTHFS deficiency) characterized by global developmental delay, cerebral hypomyelination, severe spastic tonicity in extremities, and microcephaly. Mutation in the MTHFS gene was reported in the Whole Exome Sequencing (WES) and confirmed with Sanger sequencing of parents. It is of great significance to report since it would be the first case of MTHFS mutation reported from Iran and the fourth throughout the world with novel mutation and brain imaging.

Serum 25-Hydroxyvitamin D Levels in Pediatric Burn Patients.

BACKGROUND: Previous studies have implicated the important and active role of vitamin D in the immune system. OBJECTIVES: The aim of this study was to evaluate serum levels of 25-hydroxyvitamin D in children with burn injuries. MATERIALS AND METHODS: In this cross-sectional study, 118 patients with various degrees of burn injuries were enrolled. A checklist consisting of demographic data, total body surface area (TBSA) affected by burn, degree of burn, serum level of 25(OH)D, total protein, albumin, electrolytes, and parathyroid hormone was recorded for each patient. RESULTS: Sixty-eight (57.6%) males and 50 (42.4%) females with a mean age of 4.04 years (SD = 3.04) were evaluated. The mean level of 25(OH)D was 14.58 ng/mL (SD = 6.94). Levels of 25(OH)D in four (3.39%) cases were higher than 30 ng/mL, while 95 (81.35%) cases had levels lower than 20 ng/mL, and 19 (16.10%) cases had levels of 21 - 30 ng/mL. The level of 25(OH)D was below recommended levels in 96.61% of cases, while 81.34% had vitamin D deficiency and 16.1% had insufficiency. We found a significant correlation between vitamin 25(OH)D and total protein, albumin, and total and ionized calcium (P < 0.001). There was also a significant negative correlation between 25(OH)D and TBSA affected by burn (P = 0.001). CONCLUSIONS: The levels of 25(OH)D in children suffering from severe burns were low. Supplementation might be useful in patients with very low levels of serum vitamin D.

Therapeutic effects, tolerability and safety of a multi-strain probiotic in Iranian adults with irritable bowel syndrome and bloating.

BACKGROUND: Irritable bowel syndrome (IBS) is a common disorder in Iran with challenging treatment. Although trials have suggested that probiotics alleviate the complaints of patients with minimal side effects, they have not been investigated in Iranian adults. METHODS: In a randomized double-blind study, 108 eligible IBS patients (Rome III Criteria) aged 20 - 70 years who referred consecutively to a clinical center in Tehran with abdominal bloating from 2010 to 2012 received a combination probiotics or placebo twice daily for 4 weeks. The objective was to evaluate the efficacy and safety of a multi-strain probiotics combination. One week prior to and throughout the treatment, the participants recorded their abdominal symptoms on a daily basis, using visual analogue scale and reported satisfactory relief of general symptoms at the end of each week. Adverse events were evaluated by self-reporting and physical examination. Continuous variables were analyzed by independent t-test and chi-square was used for binomials. RESULTS: The baseline characteristics were balanced (60% female, mean age 36.7 ± 11.5). A total of 97 (51 intervention, 46 control) completed the treatment. Intention to treat analysis was done on 108 allocated subjects. 85% of the probiotic group reported satisfactory relief of general symptoms compared with 47% in the control group (P < 0.01). A reduction in abdominal bloating and pain with probiotic was superior to placebo [-13.0 vs. -3.7 (P < 0.01), -8.2 vs. -2.1 (P = 0.02), respectively]. No severe adverse drug reaction was seen in either group. CONCLUSIONS: A 4-week period of treatment with the combination probiotics twice daily was safe, well tolerated, and effective in our patients. Further investigation is recommended for other subgroups of IBS. Trial Registration: IRCT.ir IRCT2012071010230N1.