Effect of radiation on serum anti-Müllerian hormone during hysterosalpingography in female infertility.

RESEARCH QUESTION: Does radiation exposure during hysterosalpingography (HSG) negatively affect serum anti-Müllerian hormone (AMH) levels in infertile women? DESIGN: Prospective cohort study conducted at Songklanagarind Hospital, Thailand, between April 2021 and May 2023. Thirty-two infertile women and 34 control participants were enrolled. Serum AMH levels were assessed in the infertile group at baseline before the HSG procedure and at 1 and 3 months after the procedure. Control participants, who self-reported no medical conditions, underwent the same AMH level assessments. Changes in serum AMH levels were compared. RESULTS: Infertile women had a mean age of 32.4 ± 3.8 years, body mass index of 21.2 ± 2.0 kg/m2 and baseline mean AMH level of 3.66 ng/ml (95% CI 3.00 to 4.32), which did not significantly differ from the control group. One month after HSG, mean AMH level significantly declined (0.33 ng/ml, 95% CI -0.65 to -0.01; P = 0.045) in the infertile group. The change in serum AMH levels between baseline and 1 month was significantly different in the HSG group compared with controls (-0.33 ng/ml, 95% CI -0.65 to -0.01 versus 0.36 ng/ml, 95% CI 0.06 to 0.67; P = 0.002). Changes in serum AMH levels from baseline to 3 months did not differ between the two groups. CONCLUSIONS: One month after the HSG, infertile women experienced a significant decrease in serum AMH levels compared with controls. The change in serum AMH levels between baseline and 3 months after HSG did not significantly differ from that of the control group.

Reducing Laboratory Turnaround Time in Patients With Acute Stroke and the Lack of Impact on Time to Reperfusion Therapy.

CONTEXT.­: Timely reperfusion improves the recovery of patients with acute ischemic stroke. Laboratory results are crucial to guide treatment decisions in patients when abnormal laboratory tests are suspected. OBJECTIVE.­: To implement a new laboratory workflow for acute stroke patients and compare laboratory turnaround time (TAT) preimplementation and postimplementation. DESIGN.­: We conducted a retrospective pre-post intervention study of patients with suspected acute stroke during the 4-month periods before and after the implementation of a new laboratory workflow process. The improvement process included relocating the specimen registration site, laboratory notification before specimen arrival, a color-coding system on tubes, timing at all processes, and eliminating the smear review if platelets were normal. TATs of the laboratory and door-to-clinical intervention times before and after the improvement process were compared. RESULTS.­: Postintervention, median specimen transportation time decreased from 11 (interquartile range [IQR], 8.4-16.4) to 9 minutes (IQR, 6.3-12.8), P < .001. The intralaboratory and total TATs of complete blood cell count, coagulation tests, and creatinine significantly decreased (P < .001 for all). Blood drawn-to-laboratory reported time decreased from 43 (IQR, 36.0-51.5) to 33 minutes (IQR, 29.2-35.8, P < .001). However, door-to-needle time for thrombolysis and door-to-puncture time and door-to-recanalization time for mechanical thrombectomy were not statistically different (P = .11, .69, and .50, respectively). CONCLUSIONS.­: The new laboratory workflow significantly decreased transportation time, TAT of individual tests, and the blood drawn-to-laboratory reported time. However, the time to treatment of acute ischemic stroke patients was not different between preimplementation and postimplementation.

Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature.

Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient's peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%-17% by FISH analyses of uncultured peripheral blood, and 10%-15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body.

The Direct Spectrophotometric Method Is Reliable for Initial Assessment of Total Bilirubin in Neonatal Venous Plasma.

OBJECTIVE: To determine the consistency of bilirubin values between the direct spectrophotometric (DS) and colorimetric diazo (diazo) methods in neonatal venous plasma specimens. METHODS: We measured the total bilirubin via the DS and diazo methods in 255 neonatal venous plasma specimens and compared the overall and subgroup results. RESULTS: Slight underestimation of total bilirubin values in most specimens using the DS method was observed, with higher mean biases found in higher concentrations. Significantly high positive correlations were found in all groups in which most of the different values were within the limits of agreement. DS cutoff of > 12 mg/dL showed 100% for all predictive indices in comparison with the diazo cutoff > 15 mg/dL. CONCLUSIONS: Measurement of total bilirubin in neonatal venous plasma using the DS method had favorable agreement and high correlation with the diazo method. Therefore, the direct spectrophotometric method can be used as a reliable screening method.

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

BACKGROUND: Little is currently known about the genetics of pilomatricoma. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. In this study, we reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. OBJECTIVES: To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. METHODS: Cytogenetic analysis was carried out on peripheral blood, biopsied skin, and pilomatricoma tissue obtained from a patient with tetrasomy 9p syndrome. Immunohistochemical staining was performed on the pilomatricoma tissue, using beta-catenin and bcl2 monoclonal antibodies. RESULTS: SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. CONCLUSION: Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient.