Adjacent-2 disjunction of a maternal t(9;22) leading to duplication 9pter----q22 and deficiency of 22pter----q11.2

The proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,-22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced translocation involving chromosomes 9 and 22 at regions q22 and q11.2, respectively. The unbalanced karyotype seen in the proposita arose due to an adjacent-2 disjunction of the quadrivalent in the mother. Prenatal diagnosis of the second pregnancy of this woman showed a similar karyotype. Review of the literature shows that adjacent-2 disjunction may occur preferentially when certain chromosomes are involved in translocations.     

Spectral electroencephalographic correlates of iron status: Tired blood revisited

For some time, clinical reports have described impairment of affective and cognitive functions in iron deficient persons. Recent studies suggest that both brain biochemistry and cognitive performance capacity may be disrupted by inadequate intake of dietary iron, but the relationship of the possible neurophysiological effects to psychological ones is unclear. To examine the relationship of iron status to simultaneous measures of cortical activation and cognitive performance, 8 channels of electroencephalographic (EEG) data were recorded during a resting period and during the performance of several cognitive tasks in two groups of men. The EEG data were spectrally analyzed, and measures of total power and frequency of peak power in each of several bands of the power spectrum for each channel were used as predictors in multiple regression analyses with serum iron and serum ferritin as alternative criteria. Measures of power in the delta frequency in the resting period appeared relevant to iron status in both groups, perhaps indicating alertness or arousal level. Consistently in these regressions, the asymmetry of the EEG appeared relevant to iron and ferritin. These findings suggest that the combination of EEG and performance measures may help characterize the neuropsychological effects of trace element nutrition.     

Construction of an antigenic map for human B-cell precursors

The purpose of this study was to evaluate the binding of a panel of monoclonal antibodies to human pre-B cells present in fetal, pediatric, and adult bone marrow. The antibodies included BA-1, BA-2, BA-3 (anti-CALLA), anti-B1, L243 (anti-HLA-DR), and T101. Binding of the monoclonal antibodies to pre-B cells was evaluated at the single-cell level by double fluorochrome analysis. Percentages of BA-1+ and anti-B1+ pre-B cells were independent of age group. BA-1 bound to approximately 80% of fetal, pediatric, and adult bone marrow pre-B cells, whereas anti-B1 bound to approximately 50%. BA-2 bound to 55% of fetal pre-B cells, but this percentage decreased to 32% in pediatric and 16% in adult bone marrow. CALLA was expressed on less than 10% of fetal, pediatric, and adult bone marrow pre-B cells, and HLA-DR was expressed on greater than 95% of fetal, pediatric, and adult pre-B cells. Although T101 (an anti-T-cell monoclonal antibody) did not bind to pre-B cells, it did bind to approximately 25% of the sIgM+ cells in fetal bone marrow. These results suggest a predominant phenotype of L243 (anti-HLA-DR)+, BA-1+, BA-3 (anti-CALLA)-, T101- for the human pre-B cell while phenotypic heterogeneity exists for anti-B1 and BA-2.     

Surface immunoglobulins mediate efficient transport of antigen to lysosomal compartments resulting in enhanced specific antigen presentation by B cells

A BCL₁ immunoglobulin (Ig) transfectant, expressing wild-type surface (s)IgM with the TEPC-15 idiotype (T15-Id) and anti-phosphorylcholine (PC) specificity, was previously shown to present PC-conjugated hen egg-white lysozyme (PC-HEL) to a HEL-specific T cell hybridoma at a lower antigen (Ag) concentration than that required for native HEL. Two variant Ig transfectants, expressing T15-Id sIgM with substitutions either in the entire spacer, transmembrane (TM) domain and cytoplasmic tail (B186 variant) or in the NH₂-terminal third of TM domain only (TM2 variant), failed to display this sIgM-mediated, enhanced presentation of PC-HEL at low concentrations. However, prolonged treatment with anti-T15-Id monoclonal antibody (mAb) led to a reduction of surface expression of the T15-Id sIgM in the wild-type and TM2 variant, but not in the B186 variant sIgM transfectants. Treatment with anti-T15-Id mAb also resulted in an increased intracellular accumulation of T15-Id sIgM in the wild-type transfectant, but not in the B186 variant. Subcellular fractionation analysis revealed that the ligands bound to the T15-Id sIgM are not efficiently transported to the dense lysosomal compartments in both B186 and TM2 transfectants, as compared to the wild-type sIgM transfectant. A significant increase in tyrosine phosphorylation after cross-linking of the T15-Id sIgM was observed only in the wild-type sIgM transfectant. These results suggest that, while the NH₂-terminal third of the TM region is not involved in the process responsible for the ligand-induced reduction of surface expression of sIgM, it appears to be essential for subsequent transport of sIgM/ligand complexes to the lysosomal compartments, as well as efficient activation of tyrosine kinases. These results strongly suggest that sIg-mediated enhancement of specific antigen presentation reflects the ability of sIg to efficiently transport antigen to the lysosomal compartments, and possibly the activation of protein tyrosine kinases.     

Striated intramural gallbladder lucencies on US studies: predictors of acute cholecystitis

Ultrasound scans of 51 consecutive patients with gallbladder wall thickening were reviewed, and specific sonographic features were correlated with surgical and clinical follow-up. Two patterns of thickening were identified as specific indicators of the presence or absence of acute cholecystitis. "Striated" wall thickening, consisting of several alternating, irregular, discontinuous, lucent and echogenic bands, was seen in eight of 13 patients (62%) with acute cholecystitis. This pattern was not encountered in any of the patients who did not have acute cholecystitis. Conversely, "three-layer" thickening, consisting of a single circumferential lucent zone between two relatively uniform echogenic layers, was seen in only one of 13 patients (8%) with acute cholecystitis but in 11 of 38 patients (29%) with other diagnoses. Other abnormalities, including the presence of intramural echogenic foci and wall irregularities, were more frequently seen in patients with acute cholecystitis but were not as helpful. Use of these features may suggest or help exclude a diagnosis of acute cholecystitis in those patients in whom the cause of gallbladder wall thickening is otherwise not apparent.     

Carcinoma of the esophagus with adenoid cystic differentiation

Adenoid cystic carcinoma of the esophagus is a relatively rare lesion which characteristically exhibits a clinically aggressive behavior. In spite of this aggressive nature, it is most often referred to as a counterpart of the more common adenoid cystic carcinoma of salivary gland origin, a comparatively indolent tumor. In this report, the clinical and pathologic findings in a series of six cases of esophageal adenoid cystic carcinomas are contrasted with those of typical salivary gland lesions, and also compared to similar tumors exhibiting "adenoid cystic" differentiation arising in other extrasalivary gland sites. It is concluded that the esophageal tumors, as well as certain similar lesions arising in other extrasalivary gland sites, represent a class of poorly differentiated basaloid neoplasms distinct both clinically and morphologically from the common adenoid cystic carcinoma of salivary gland origin.     

The Effects of Sleep Quality and Resilience on Perceived Stress,Dietary Behaviors,and Alcohol Misuse: A Mediation-Moderation Analysis of Higher Education Students from Asia,Europe, and North America during the COVID-19 Pandemic

Background: The coronavirus disease 2019 (COVID-19) pandemic has increased the already high levels of stress that higher education students experience. Stress influences health behaviors, including those related to dietary behaviors, alcohol, and sleep; yet the effects of stress can be mitigated by resilience. To date, past research studying the connections between dietary behaviors, alcohol misuse, sleep, and resilience commonly investigated singular relationships between two of the constructs. The aim of the current study was to explore the relationships between these constructs in a more holistic manner using mediation and moderation analyses. Methods: Higher education students from China, Ireland, Malaysia, South Korea, Taiwan, the Netherlands, and the United States were enrolled in a cross-sectional study from April to May 2020, which was during the beginning of the COVID-19 pandemic for most participants. An online survey, using validated tools, was distributed to assess perceived stress, dietary behaviors, alcohol misuse, sleep quality and duration, and resilience. Results: 2254 students completed the study. Results indicated that sleep quality mediated the relationship between perceived stress and dietary behaviors as well as the relationship between perceived stress and alcohol misuse. Further, increased resilience reduced the strength of the relationship between perceived stress and dietary behaviors but not alcohol misuse. Conclusion: Based on these results, higher education students are likely to benefit from sleep education and resilience training, especially during stressful events.     

Milk-Fat Intake and Differences in Abdominal Adiposity and BMI: Evidence Based on 13,544 Randomly-Selected Adults

The primary purpose of this investigation was to evaluate the relationship between milk-fat intake and obesity, particularly abdominal obesity, in 13,544 U.S. adults. A lesser objective was to measure the degree to which the association was influenced by multiple potential confounding variables. This cross-sectional study used data from the 2011–2016 National Health and Nutrition Examination Survey (NHANES). Quantity of milk-fat regularly consumed was the exposure variable. Sagittal abdominal diameter (SAD), a measure of abdominal obesity, and body mass index (BMI) were the outcome variables. Sagittal abdominal diameter is a strong predictor of visceral abdominal fat, when measured by computed tomography, and has been shown to predict cardiometabolic disorders better than BMI. After controlling for age, race, gender, physical activity, leisure computer use and gaming, alcohol habits, and cigarette use, significantly lower BMIs were associated with consistent non-fat and full-fat milk consumption (F = 4.1, p = 0.0063). A significantly lower SAD was associated only with regular consumption of non-fat milk (F = 5.0, p = 0.0019). No significant differences were detected between the other milk-fat groups or milk abstainers. In this nationally representative sample, only 19.6% of adults regularly consumed low-fat milk. In conclusion, consistent non-fat milk intake was predictive of lower levels of abdominal adiposity compared to consumption of higher levels of milk-fat.     

A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis

Advances in techniques of molecular biology have made possible the amplification of specific genes from single cells. This has a major clinical application in preimplantation diagnosis of monogenic disorders. However, the incidence of allele specific amplification failure (allele drop out) in heterozygous single cells can lead to misdiagnosis and the transfer of affected embryos. Few studies have been done to investigate the actual cause of allele drop out, although some investigators have succeeded in reducing but not eliminating it. Here we report the efficiency of amplifying both alleles in heterozygous cells lysed according to two different protocols. A total of 177 heterozygous cells from carriers of cystic fibrosis (CF) and haemoglobin C (HbC) were lysed using two different lysis buffers. Interestingly none of the cells that were lysed with sodium dodecyl sulphate/proteinase K showed any example of allele specific amplification failure whereas in those lysed by KOH/dithiothreitol it was present in 17.6 and 4.7% of the CF and HbC cells respectively. Our results suggest that the phenomenon of allele specific amplification failure is at least in part dependent on the lysis buffer used.