Thrombosis risk in carriers of the factor V Leiden mutation: is it associated with a defined skin color?

Factor V Leiden (FVL; G1691A) is an autosomal dominant mutation with a high risk for thrombosis. Speculation that founders of FVL lived in the Middle East is supported by a prevalence of FVL that is higher in Arabs residing in Israel, Jordan, Lebanon, and Syria (12-14%) than in other white populations like Europeans (4-5%, up to 15% in the South of Sweden). We sought to verify the appropriate use of skin color as a clinical sign by which Arab individuals in Kuwait are included or excluded from testing for FVL. After institutional approval, 200 healthy Arabs residing in Kuwait consented to participate. Skin type was distinguished for the participants by Fitzpatrick natural skin color classification: 76 (38%) skin type II (white), 96 (48%) Mediterranean skin type IV (brown), and 28 (14%) skin type VI (black). FVL was tested by real-time PCR, and the percentage of carriers was calculated in each group. FVL was positive in 17 (8.5%) of the total subjects: 8 (10.5%) skin type II, 7 (7.3%) skin type IV, and 2 (7.1%) skin type VI. Therefore, FVL shows an even distribution in Arabs, and all Arabs residing in Kuwait should be tested for FVL irrespective of skin color.     

Complex translocation involving four chromosomes in a novel Philadelphia-positive chronic myeloid leukemia case

The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. Approximately 5-10% of these patients show complex translocations involving a third chromosome in addition to chromosomes 9 and 22. Since the majority of CML cases are currently treated with imatinib, variant rearrangements in general have no specific prognostic significance, although the mechanisms involved in resistance to therapy have yet to be investigated. This study evalutated a CML case with complex chromosomal aberrations not previously observed. A four chromosome translocation involving chromosomal regions such as 12q24.2-24.31 and 16p11.2 besides 9q34 and 22q11 were characterized in detail by array-proven multicolor banding (aMCB). A beneficial response to imatinib was noted in the patient.     

Does loss of hormonal receptors influence the pathophysiological characteristics of the HER-2 breast cancer phenotype?

Background

Some breast carcinomas (BC) of the HER-2 type respond poorly to endocrine therapy, indicating that hormonal receptor (HR) status possibly impacts the biological criteria of this tumor class. The aim of this study was to compare the clinicopathological characteristics of HR-positive and HR-negative tumors occurring in HER-2 and non-HER-2 BC.

Obsessive-compulsive disorder

This review article addresses obsessive-compulsive disorder from the prospective of information that is relevant to general practitioners, family physicians, and other medical health specialists, focusing on epidemiology, etiology, diagnostic criteria, comorbidity, and a summary of well recognized treatment modalities and approaches that are available to treat this condition.     

Insertion of the 3' ABL region into the long arm of chromosome 1 in a Philadelphia chromosome-negative chronic myeloid leukemia case

Chronic myeloid leukemia (CML) is a pluripotent hematopoietic stem cell disorder almost always characterized by the presence of the Philadelphia chromosome (Ph), usually due to t(9;22)(q34;q11). The presence of Ph results in the formation of the BCR/ABL fusion gene, which is a constitutively activated tyrosine kinase. Approximately 1% of CML patients appear to have a Ph-negative karyotype but carry a cryptic BCR/ABL fusion that can be located by fluorescence in situ hybridization (FISH) at chromosome 22q11, 9q34 or a third chromosome. This study investigated a rare Ph-negative CML case with insertion of the 3' ABL region into the long arm of derivative chromosome 1 but lacking the 5' BCR region on der(22).     

A unique complex translocation involving six different chromosomes in a case of childhood acute lymphoblastic leukemia with the Philadelphia chromosome and adverse prognosis

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Approximately 84% of cases of ALL are classified as B-precursor ALL, 14% of cases are T-cell and 2% of cases are B-cell (B-)ALL. About one third of B-ALL cases show an abnormal karyotype. Combining data obtained by immunophenotyping, karyotyping and molecular cytogenetic analyses allows for a better understanding of this heterogeneous disease. This study reports an exceptional B-ALL case with a poor prognosis and unique complex chromosomal aberrations not previously observed, i.e., a translocation involving the six chromosomal regions 1q42, 4q21, 4q24, 4q35 (twice), 8q22 and 10p15.3 besides 9q34 and 22q11.2.     

An overview of the genetic risk of developing schizophrenia in relatives of schizophrenic patients

In this article, we review the recent research evidence of genetic risks in the relatives of patients with schizophrenia, with particular focus on family, twin, adoptive, and gene studies. All current evidence supports a greater role for genetic transmission of vulnerability in the etiology of schizophrenia. Environmental factors appear to play an important role in the timing of expression, the severity and the clinical evolution of the illness.     

Efficacy of Edible Bird’s Nest on Cognitive Functions in Experimental Animal Models: A Systematic Review

Edible bird’s nest (EBN) is constructed from saliva of swiftlets birds and consumed largely by Southeast and East Asians for its nutritional value and anti-aging properties. Although the neuroprotection of EBN in animals has been reported, there has not been yet systemically summarized. Thus, this review systemically outlined the evidence of the neuroprotective activity of EBN in modulating the cognitive functions of either healthy or with induced-cognitive dysfunction animals as compared to placebos. The related records from 2010 to 2020 were retrieved from PubMed, Scopus, Web of Science and ScienceDirect using pre-specified keywords. The relevant records to the effect of EBN on cognition were selected according to the eligibility criteria and these studies underwent appraisal for the risk of bias. EBN improved the cognitive functions of induced-cognitive dysfunction and enhanced the cognitive performance of healthy animals as well as attenuated the neuroinflammations and neuro-oxidative stress in the hippocampus of these animals. Malaysian EBN could improve the cognitive functions of experimental animals as a treatment in induced cognitive dysfunction, a nutritional cognitive-enhancing agent in offspring and a prophylactic conservative effect on cognition against exposure to subsequent noxious cerebral accidents in a dose-depended manner through attenuating neuroinflammation and neuro-oxidative stress. This systemic review did not proceed meta-analysis.