Arch Iran Med
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Translocations are the most common structural abnormality in the human genome. Carriers of balanced chromosome rearrangements exhibit increased risk of abortion or a chromosomally-unbalanced child. The present study was carried out in 2017 at the Iranian Blood Transfusion Research Center. ⋯ Defects included the following characteristics: dysmorphic facial characteristic, hand or foot anomalies, growth retardation, developmental delay, strabismus, heart defects and renal anomalies. Cytogenetic analysis and array CGH were performed and, for the first time, we reported a patient with trisomy 4p16.3p12 and monosomy 10q26.3. The patient was found to have: arr 4p16.3p12 (37,152-45,490,207) x3, 10q26.3 (134,872,562-135,434,149) x1 genomic imbalances.
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Hemophilia is a rare inherited disorder associated with abnormal repeated bleeding and debilitating joint pain due to deficiency in coagulating factors VIII and IX. This study aimed to provide an updated account on the health-related quality of life (HRQoL) in children with hemophilia in Afghanistan. ⋯ Regardless of hemophilia severity, Family and Sports were the most impaired domains of QoL. Herein, we have presented the first reliable and updated data on hemophiliacs' demographic characteristics and their quality of life in Kabul.
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Case Reports
Granulomatosis with Polyangiitis Manifesting as Refractory Otitis Media and Mastoiditis.
Granulomatosis with polyangiitis (GPA) is a rare rheumatologic disease characterized by small to medium vessel vasculitis and inflammation within multiple organ systems. Majority of cases involve both upper and lower respiratory tracts but other organs including brain, kidneys, joints and skin can also be involved. Patients who have recurrent otitis media and sinusitis often initially present to internists and then to ear nose and throat (ENT) physicians and may be treated with multiple courses of antibiotics without having proper workup for GPA. ⋯ The patient had complete resolution of symptoms with steroid therapy. This case reinforces the concept of high index of suspicion of GPA for patients with recurrent and resistant otitis media or mastoiditis not responding to optimal duration and doses of antibiotics. Appropriate work-up for GPA may allow for earlier diagnosis of this devastating vasculitic disease which can help prevent multi-organ dysfunction.
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To construct a dietary guideline for patients with irritable bowel syndrome (IBS), data about foods these people exclude from their diet to improve their symptoms are necessary. This study was designed to assess the prevalence of food exclusions as well as the reasons for such exclusions in a large group of IBS patients. ⋯ The present study showed that IBS patients were more likely to avoid consumption of ketchup, Dough, Gaz, grapes, fresh berries and butter due to GI symptoms compared with healthy individuals. Further studies are required to confirm these findings.
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Providing, maintaining, and improving the health of newborns is one of the most important goals of the health care system in the Islamic Republic of Iran. On the eve of the 40th anniversary of the Islamic Revolution of Iran, we will review factors affecting the health of Iranian neonates over the past 40 years. ⋯ Despite 8 years of war and a variety of sanctions being imposed against I.R. of Iran, very substantial improvements have been achieved in neonatal health and relevant underlying factors. However, we are still faced with challenges that require the engagement of experts and researchers in neonatal medicine.