Graves' disease with pancytopenia: A rare case report.

Key Clinical Message: In this case report we describe a patient with Grave's disease (GD) who was first diagnosed with pancytopenia and did not have any typical symptoms of GD. His hematologic abnormalities were alleviated after treatment with an anti-thyroid drug. Hence, in patients with pancytopenia, GD should also be considered. Abstract: A variety of hematologic abnormalities can be seen in Graves' disease (GD), however; here, we describe a patient with GD and a very rare complication; pancytopenia. His hematologic abnormalities and clinical status were alleviated after treatment with an anti-thyroid drug. Hence, in patients with pancytopenia and normal bone marrow examination, GD should also be considered.

Leukemic retinopathy presenting as concurrent bilateral subhyaloid hemorrhage and subarachnoid hemorrhage in a patient with acute monocytic leukemia: a case report.

BACKGROUND: Ophthalmic manifestations are common in patients with leukemia, developing in nearly 50% of cases. Intracranial hemorrhage is another potentially fatal complication of leukemia. In this case report, we aim to present a challenging case that involves both ophthalmic and intracranial manifestations in an individual with acute monocytic leukemia. CASE PRESENTATION: A 36-year-old Persian male presented to the emergency room with complaints of fever, headache, and bilateral blurred vision. The patient had been diagnosed with acute monocytic leukemia 3 months prior and had undergone four sessions of induction chemotherapy, the last of which was 10 days prior to admission. The patient was admitted to the internal medicine service, and initial lab studies confirmed pancytopenia, including severe neutropenia, anemia, and thrombocytopenia. Subarachnoid hemorrhage in the left frontal lobe was detected through spiral brain computed tomography scan. Ophthalmic examination revealed visual acuity of light perception in the right eye and 3-m finger count in the left eye. Fundus examination revealed bilateral peripapillary subhyaloid and intraretinal hemorrhages, confirming leukemic retinopathy. The patient showed significant improvement in visual acuity and hemorrhage resolution through conservative treatment and regular follow-ups after 3 months. CONCLUSION: Simultaneous subarachnoid hemorrhage and bilateral subhyaloid hemorrhages seemed to have occurred as a result of pancytopenia. Management approach of ophthalmic manifestations of leukemia involves interdisciplinary cooperation and should be individualized on the basis of the patients' underlying medical condition.

Obesity and iron-deficiency anemia in women of reproductive age in northern Iran.

BACKGROUND: Obesity and iron deficiency (ID) are two forms of the most usual nutritional disorders worldwide. Some studies have discovered a correlation between ID and obesity although more investigation is required. This study was aimed to determine the association between obesity and ID anemia (IDA) in Iranian childbearing age women. MATERIALS AND METHODS: This cross-sectional study was done on 256 women of reproductive age in northern Iran. The anthropometric measurements including height and weight were measured, and body mass index (BMI) was calculated. Low blood index of the hemoglobin (Hb), mean cell volume (MCV), and mean corpuscular hemoglobin (MCH) were evaluated with ferritin, serum iron, and total iron-binding capacity. Baseline data were expressed as means ± standard deviations. Chi-square test was applied to compare the categorical variable. Differences between the two groups were evaluated with independent samples t-test. A value of P < 0.05 was considered as statistically significant. RESULTS: Obesity was in urban women higher than rural women (55.1% vs. 44.9%), and this difference was significant (P < 0.021). There was found no association between hematological characteristics and BMI. The data showed that only 13.4% of obese women and 17.1% of the women with normal weight had IDA (odds ratio = 0.75; 95% confidence interval: 0.39-1.49, P > 0.05). CONCLUSIONS: According to the results of this study, it seems that the relationship between obesity and IDA is controversial. Hence, further studies are needed to be done.

First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C).

α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (HBA1: c.298A>T) associated with a α2-chain variant Hb Fontainebleau (HBA2: c.64G>C) in a family from northern Iran. The case is a 23-year-old man with hypochromic microcytic anemia that requested for prenatal diagnosis. The combination of α1-globin mutation and Hb Fontainebleau can cause clinical and hematologic features of thalassemia. This combination also highlights the important heterogeneity of alpha thalassemia in this part of the world.

Is 99m Tc-methylene diphosphonate bone scintigraphy a sensitive method for detecting bone lesions in multiple myeloma?

BACKGROUND: Bone lesion in multiple myeloma (MM) is most commonly presented as a lytic lesion in this disease. Determination of extent of bone lesions in MM is necessary to follow-up the patients. Whole body bone scan with 99m, Tc-methylene diphosphonate (MDP) has a lower sensitivity than other modalities. METHODS: From the patients with MM admitted to Ayatollah Rouhani Hospital of Babol-Iran from 2009 to 2015, who had undergone whole body bone scan during diagnostic process, were entered into the study. Findings of bone scan were compared with MRI. RESULTS: Of the 19 patients, sixteen (84.2%) of them had positive finding in bone scan, fifteen (78.9%) had MRI of the spine. While of the thirteen patients who had positive finding in MRI, seven (53.8%) had more positive finding in thorcolumbosacral MRI than in bone scan. CONCLUSIONS: 99m-Tc MDP bone scan is a sensitive but insufficient method for detecting bone lesions in MM.

A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran.

α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing. Of the nine different mutations found, the most frequent were -α3.7 (rightward deletion) (45.6%), polyadenylation site (αp°lyA2α) (α2) (AATAAA>AATGAA; HBA2: c.*92 A>G) (15.27%), - -MED (Mediterranean deletion) (6.86%), -α4.2 (leftward deletion), (6.17%), αCSα [Hb Constant Spring (Hb CS) (HBA2: c.427 T>C)] (4.62%), -α-5 nt (HBA2: c.95+2_95+6delTGAGG) (3.70%). All chromosomes bearing an α-globin point mutation [αp°lyA2α, -α-5 ntα, αCSα, αp°lyA1α (AATAAA> AATAAG; HBA2: c.*94 A>G)] showed only one haplotype that was present in most normal chromosomes, while the -α3.7 deletion was associated with three distinct haplotypes. Our results indicate that α-thal mutations are heterogeneous and -α3.7 and αp°lyA2α are the most prevalent mutations in this region. The presence of -α3.7 with three different haplotypes suggests an older history for this mutation. The high prevalence of αp°lyA2α in Mazandaran Province, Iran compared to other parts of the country and the world, suggests a founder effect. Altogether, we here provide further data confirming the heterogeneity of the northern population of Iran. These data may contribute to the establishment of a national mutation database, more accurate genetic counseling and prenatal diagnosis (PND).

Human papilloma virus infection in non-cancerous versus normal esophageal tissue samples by endoscopy.

BACKGROUND: Cancers are the second most common cause of non-accidental deaths in Iran, after cardiovascular mortality. Although most cases of esophageal squamous cell carcinoma (ESCC) in the USA and western populations have been attributed to high levels of exposure to tobacco and alcohol, but in Iranian populations, other risk factors especially infectious agents have been postulated as possible causes, particularly human papillomavirus (HPV). This study aimed to determine the prevalence and the types of HPV infection in biopsy samples taken from non-cancerous esophageal lesions during upper endoscopy. METHODS: A total of 80 non-cancerous esophageal samples were collected in parafinnated blocks of tissue archives in pathology. After DNA extraction, qualitative PCR (qPCR) was performed using the HPV L1 primer pairs MY09/MY11 and then genotyping was performed in HPV DNA positive by Real time PCR. RESULTS: From 80 cases, 29 (36.3%) were qPCR positive. Using the Real-time PCR method, a total of 14 HPV genotypes were assessed. We detected HPV-11 as a dominant type in this study and we did not find any type of HPV-16 and 18 genotypes. CONCLUSION: In this study, HPV-II was the most common type in esophageal samples, in contrast we have found no oncogenic HPV like HPV 16 and 18 which are the most known responsible factors of ESCC in other countries.

HER-2/neu Marker Examination using Immunohistochemical Method in Patients Suffering from Gastric Adenocarcinoma.

Gastric adenocarcinoma is the second leading cause of death due to cancer in the world and in advanced stages the prognosis is poor even with current therapies. Over-expression of HER-2/neu has been seen in several cancers such as gastric cancer and its expression is associated with poor prognosis. The aim of this study is to evaluate the over-expression of HER-2/neu in gastric biopsy samples of patients with gastric carcinoma diagnosis; and to evaluate its probable relationship with clinical and pathological findings. The over-expression of HER-2/neu was examined retrospectively by immunohistochemistry method in 60 paraffin embedded samples collected in Babol, Iran, between 2010 and 2011. The over-expression of HER-2/neu has been observed in 6 patients (10%) and this over-expression was greater in the intestinal type of gastric adenocarcinoma than the diffuse type (12% vs. 6%); however, no statistically significant correlation between HER-2/neu expression and subtype, degree of differentiation, tumor type and age was observed. This over-expression was greater in differentiated types than undifferentiated types (18% vs. 5%).

Hematologic features of alpha thalassemia carriers.

Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features of patients with various types of α globin mutations. Hematological indices including red blood cells (RBC), hemoglobin concentration (Hb), mean cell volume (MCV), mean cell hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC) and percentage of Hemoglobin (HBA1, HBA2 and HBF) of seven-hundred and twenty two patients presenting ten different α-thal genotypes were considered. All patients showed reduced MCV and/or MCH values.Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to patients with one mutated alpha globin gene (P value<0.001). In conclusion, MCV and MCH valuescan be helpful for the selection of the appropriate molecular tests to determine the genotype of alphathalassemia carriers.