Cerebral vein thrombosis in women using short course oral contraceptive consumption

Muslim women tend to postpone their menstrual period using short course oral contraceptives [OC] during Ramadan, Muslims fasting month. Recently, many cases of stroke, particularly cerebral vein thrombosis [CVT], have been reported in Ramadan. This work studies the incidence of CVT and its relation to Ramadan. This is a cohort study conducted from October 2006 to October 2009 and included 4 consecutive Ramadan's. All patients with definite diagnosis of CVT who were referred to the neurology department of Ghaem Hospital, Mashhad, Iran in this four-year period were included in the study. During the study period, 70 cases with CVT [11 males and 59 females] were recruited. Twenty five cases were admitted during Ramadan months which was significantly higher than all the other 32 months [p=1.9×10[-7]]. The higher frequency of females [6 times more] among CVT cases probed by investigating possible risk factors and short term OC consumption was revealed as the major risk factor [p=0.00071]. Higher incidence of CVT in females during Ramadan suggests the presence of specific risk factors in this group. Our study revealed that short-term use of OCs may be a major risk factor for CVT

Differential diagnosis of cervical malignant lymphadenopathy among Iranian patients

To investigate the differential diagnosis in cases referred with neck lumps suspicious to malignant nodal masses and its relation to demographic variants. Individuals who entered in this cross-sectional study conducted at the Department of Otolaryngology, Ghaem Medical Center, Mashdad, Iran from May 1995 to April 2005 were re-evaluated by history taking, physical examination and imaging studies. Fine needle aspiration was applied to obtain tissue sampling. Among the patients, 232 cases had malignant disease confirmed by pathology reports. Cases with unknown primary tumor underwent investigations including pan-endoscopy, and further imaging studies were carried out to determine the primary tumor site. Demographic data as gender, age, location, size, and pathology of tumor were considered. The results of this study showed that 50% of patients which were referred with neck masses had malignant neoplasm. The most common pathology in patients younger than 40 years were lymphoma [55%] and thyroid cancer [26%], whereas, in patients older than 40 years squamous cell carcinoma [67%] was more common. The most involved lymph nodes were jugulodigastric chain. Larynx and hypopharynx are the most common sources of aerodigestive tract metastatic. According to high incidence malignancy [50%] among neck lesions, an asymmetrical neck mass in adults should be considered malignant until proven otherwise. It seems that age is an important predictor of tumor pathology, and determination of further diagnostic investigations would be helpful

Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis

Infantile malignant osteopetrosis [arOP] is an autosomal recessive disorder. Mutations in the T-cell immune regulator 1 [TCIRG1] gene were found as the cause of arOP. We found the first Iranian patient with a rare gross deletion in this gene. The patient was a 5-year-old girl with macrocephaly, facial dysmorphism, blindness, mental retardation, hepatosplenomegaly, pancytopenia, and osteosclerotic changes in the skull and limb. Molecular analysis was performed using reverse transcriptase-polymerase chain reaction for exons 10-19 of the TCIRG1 gene followed by whole gene sequencing. She showed a 275 bp unexpected amplified segment. Sequencing revealed a gross deletion in exons 10-15 transcript region of TCIRG1 that affected codon 389 to 518. Various types of mutations in the TCIRG1 gene in arOP have been reported, however, gross deletions are reported rarely. This gross deletion is the first mutation reported among Iranian patients in this gene. This deletion is also the largest deletion of TCIRG1 gene reported to date

Rapid DNA extraction protocol from stool, suitable for molecular genetic diagnosis of colon cancer

Colorectal cancer [CRC] is one of the most common forms of cancers in the world and is curable if diagnosed at the early stage. Analysis of DNA extracted from stool specimens is a recent advantage to cancer diagnostics. Many protocols have been recommended for DNA extraction from stool, and almost all of them are difficult and time consuming, dealing with high amount of toxic materials like phenol. Their results vary due to sample collection method and further purification treatment. In this study, an easy and rapid method was optimized for isolating the human DNA with reduced PCR inhibitors present in stool. Fecal samples were collected from 10 colonoscopy-negative adult volunteers and 10 patients with CRC. Stool [1 g] was extracted using phenol/chloroform based protocol. The amplification of P53 exon 9 was examined to evaluate the extraction efficiency for human genomic targets and also compared its efficiency with Machiels et al. and Ito et al. protocols. The amplification of exon 9 of P53 from isolated fecal DNA was possible in most cases in 35 rounds of PCR using no additional purification procedure for elimination of the remaining inhibitors. A useful, rapid and easy protocol for routine extraction of DNA from stool was introduced and compared with two previous protocols