Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.

A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion.

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

Predictive usefulness of qSOFA, NEWS and GYM scores in the elderly patient: EDEN-5 study.

OBJECTIVE: To analyze the prognostic accuracy of the scores NEWS, qSOFA, GYM used in hospital emergency department (ED) in the assessment of elderly patients who consult for an infectious disease. METHODS: Data from the EDEN (Emergency Department and Elderly Need) cohort were used. This retrospective cohort included all patients aged ≥65 years seen in 52 Spanish EDs during two weeks (from 1-4-2019 to 7-4-2019 and 30/3/2020 to 5/4/2020) with an infectious disease diagnosis in the emergency department. Demographic variables, demographic variables, comorbidities, Charlson and Barthel index and needed scores parameters were recorded. The predictive capacity for 30-day mortality of each scale was estimated by calculating the area under the receiver operating characteristic (ROC) curve, and sensitivity and specificity were calculated for different cut-off points. The primary outcome variable was 30-day mortality. RESULTS: 6054 patients were analyzed. Median age was 80 years (IQR 73-87) and 45.3% women. 993 (16,4%) patients died. NEWS score had better AUC than qSOFA (0.765, 95CI: 0.725-0.806, versus 0.700, 95%CI: 0.653-0.746; P < .001) and GYM (0.716, 95%CI: 0.675-0.758; P = .024), and there was no difference between qSOFA and GYM (P = .345). The highest sensitivity scores for 30-day mortality were GYM ≥ 1 point (85.4%) while the qSOFA score ≥2 points showed high specificity. In the case of the NEWS scale, the cut-off point ≥4 showed high sensitivity, while the cut-off point NEWS ≥ 8 showed high specificity. CONCLUSION: NEWS score showed the highest predictive capacity for 30-day mortality. GYM score ≥1 showed a great sensitivity, while qSOFA ≥2 scores provide the highest specificity but lower sensitivity.

Tachypnea in response to hypoxemia decreases with age in older patients.

AIM: To investigate if tachypneic response to hypoxia is decreased in older patients. METHODS: We included all patients ≥65 years of age attending 52 Spanish emergency departments (EDs) for whom peripheral arterial oxygen saturation (SatO2) measured by pulsioxymetry and respiratory rate (RR) were registered at ED arrival. We assessed the relationship between SatO2 and RR in different models, and with the best-fitting model, we independently analyzed this relationship in four subgroups according to patient age (65-69, 70-79, 80-89, and ≥90 years). Five sensitivity analyses using different subsets of patients were carried out to check for the consistency of the results. RESULTS: We included 7126 patients, with medians for SatO2 and RR of 97% (interquartile range [IQR]: 94-98) and 15 bpm (IQR: 15-16), respectively. We found significant associations (P < 0.001) between SatO2 and RR in every model tested (P < 0.001 for all), with the quadratic model obtaining the best fit (R2: 0.098) over those obtained with linear (R2: 0.096) and logarithmic (R2: 0.092) models. The same was observed in sensitivity analyses, with R2 for quadratic models ranging from 0.069 in patients with low comorbidity and 0.102 in patients breathing room air. The mean RR for 100% SatO2 was 15 bpm and increased as SatO2 decreased, although with a progressive slowing of the slope, with a mean RR of 27 at 50% SatO2. We detected a decreased RR response to increasing hypoxemia according to age and, while the RR curve was higher and with a progressively steepening slope in the 972 patients aged 65-69 (mean RR of 42 bpm with 50% SatO2), a progressive slowing of slope was observed in the 2693 patients aged 70-79 (mean RR of 28 with 50% SatO2), the 2582 aged 80-89 (mean RR of 25) and the 879 aged ≥90 (mean RR of 23). Sensitivity analyses provided very similar results. CONCLUSION: Tachypneic response to hypoxemia in older patients decreases as age advances, regardless of the reason leading to hypoxemia. Geriatr Gerontol Int 2024; ••: ••-••.