Hepatic encephalopathy precipitated by preeclampsia in the setting of cirrhosis: A case report.

Preeclampsia and decompensated chronic liver disease are known triggers of acute hepatic dysfunction in pregnancy, rarely including hepatic encephalopathy. Differentiating the driver of acute hepatic dysfunction in patients with concomitant preeclampsia and preexisting liver disease presents a diagnostic challenge with important management implications. A 42-year-old woman, gravida 3 para 0201, at 24 1/7 weeks of gestation presented with hepatic encephalopathy, transaminitis, and hyperbilirubinemia in the setting of cirrhosis and severe new-onset preeclampsia. The preeclampsia was thought to be the leading etiology of hepatic encephalopathy, prompting emergent Cesarean delivery at 24 2/7 weeks. Hepatic encephalopathy, blood pressure, and laboratory derangements improved promptly post-delivery. Preeclampsia can trigger acute hepatic dysfunction, including hepatic encephalopathy, in the setting of previously compensated preexisting liver disease. Recognizing this association has important implications for management and treatment.

Laparoscopic salvage procedures for adnexal torsion in pediatric and adolescent patients during the COVID-19 pandemic: a retrospective cohort study.

BACKGROUND: Early management for adnexal torsion increases likelihood of ovarian/tubal salvage. The Coronavirus disease of 2019 (COVID-19) pandemic poses delays from symptom-onset to intervention. The primary objective was to evaluate rates of ovarian salvage and tubal salvage following ovarian torsion and adnexal torsion during the COVID-19 pandemic in a pediatric and adolescent gynecology population. METHODS: This was a retrospective quality improvement cohort study of pediatric and adolescent gynecology patients at a single children's hospital who underwent laparoscopy for suspected ovarian torsion/adnexal torsion between March 2020 to March 2021. Descriptive statistics and t-tests were utilized. RESULTS: There were 50 suspected adnexal cases in 47 patients. All underwent laparoscopy, revealing 39 adnexal torsion occurrences in 36 patients and 1 patient with recurrent adnexal torsion three times. All underwent pre-operative COVID-19 testing. Mean age was 13.9 ± 2.6 years for adnexal torsion cohort. Menarche was achieved in 88% (n = 44) and 12% (n = 6) were pre-menarchal. The primary outcome was ovarian salvage and tubal salvage rates, which were 97.4% (n = 38) and 89.7% (n = 35), respectively. Secondary outcomes assessed factors contributing to the primary outcome or operative delays. The mean age of menarche was 11.2 years (salvaged) and 12.5 years (non-salvaged) (p = 0.04). There were no differences in mean pain duration or mean COVID-19 testing time between groups. Left, right and bilateral adnexal torsion occurred in 42% (n = 21), 32% (n = 16), and 4% (n = 2) respectively. The most common pathologies were paratubal cyst (n = 17, 34%) and benign ovarian cyst (n = 16, 32%). CONCLUSIONS: Ovarian salvage and tubal salvage rates were 97.4% and 89.7%, respectively during the time frame studied. These salvage rates during the study period are comparable to previous rates in a pre-COVID cohort at our institution. Institutional and departmental quality and safety initiatives likely contributed to this outcome.

Basal Plate Myofibers and the Risk of Placenta Accreta Spectrum in the Subsequent Pregnancy: A Large Single-Center Cohort.

OBJECTIVE: We aimed to evaluate whether there is a significant association between a placental pathology diagnosis basal plate myofibers (BPMF) in an index pregnancy with placenta accreta spectrum (PAS) in the subsequent pregnancy. STUDY DESIGN: We conducted a retrospective nested cohort study of all cases with a histopathological finding of BPMF between August 2012 and March 2020 at a single tertiary referral center. Data were collected for all subjects (cases and controls) with at least two consecutive pregnancies (the initial index pregnancy and at least one subsequent pregnancy) accompanied by a concomitant record of histopathological study of the placenta at our center. The primary outcome was pathologically confirmed PAS in the subsequent pregnancy. Data are presented as percentage or median, interquartile range accordingly. RESULTS: A total of n = 1,344 participants were included, of which n = 119 (index cases) carried a contemporaneous histopathological diagnosis of BPMF during the index pregnancy and n = 1,225 did not (index controls). Among the index cases, patients with BPMF were older (31.0 [20, 42] vs. 29.0 [15, 43], p < 0.001), more likely to have undergone in vitro fertilization (IVF) for conception (10.9 vs. 3.8%, p = 0.001) and were of a more advanced gestational age at delivery (39.0 [25, 41] vs. 38.0 [20, 42], p = 0.006). In the subsequent pregnancy, the rate of PAS was significantly higher among the BPMF index cases (6.7 vs. 1.1%, p < 0.001). After adjusting for maternal age and IVF, a histopathological diagnosis of BPMF in an index pregnancy was shown to be a significant risk factor for PAS in the subsequent gestation (hazard ratio: 5.67 [95% confidence interval: 2.28, 14.06], p < 0.001). CONCLUSION: Our findings support that a histopathological diagnosis of BPMF is an independent risk factor for PAS in the subsequent pregnancy. KEY POINTS: · BPMF may indicate morbid adherence of placenta.. · Patients with BPMF were older and more likely to have undergone IVF for conception.. · The BPMF in the current pregnancy is an independent risk factor for PAS in the subsequent pregnancy..

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case.

Process genes list: An approach to link genetics and human brain imaging.

BACKGROUND: Linking human genetics and brain imaging data is extremely challenging, among other reasons because both fields suffer from multiple comparison problems. NEW METHOD: ProcessGeneLists (PGL) links genetics and human brain imaging by using genes associated with a disease and calculating a normalized mRNA expression average of those genes in each brain region. Brain regions in which those genes are most co-expressed become regions of interest (ROIs) to perform brain imaging in participants with and without the disease, decreasing multiple comparisons. Once a region is identified as "imaging-relevant", the genes most responsible for that ROI being highlighted can be genotyped in the imaged sample. This allows to re-analyze imaging data under the light of likely relevant genetics, to study possible brain imaging/gene variant interactions. RESULTS: As proof-of-concept, we created two lists of genes expressed in the habenula and the striatum, to verified that PGL would highlight those regions. Next, we used a list of genes likely important in alcohol abuse from the literature, which identified several brain regions previously associated with alcohol abuse such as the striatum, habenula, and hippocampus. COMPARISON WITH EXISTING METHODS: To our knowledge there is no current method to obtain brain regions of interest from genetics data. CONCLUSIONS: Genetics typically asks "which genes are associated with a disease?" while human brain imaging typically asks "which brain regions are associated with a disease?" PGL asks "which genes, via modulation within specific brain regions, are found to be associated with a disease?".