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2.
Neoreviews ; 25(5): e282-e285, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38688887
3.
Neoreviews ; 24(10): e670-e673, 2023 10 01.
Article in English | MEDLINE | ID: mdl-37777615
6.
Neoreviews ; 24(4): e243-e245, 2023 Apr 01.
Article in English | MEDLINE | ID: mdl-37002394
7.
Case Rep Womens Health ; 35: e00420, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35574175

ABSTRACT

Introduction: Pregnant women affected by coronavirus disease 2019 (COVID-19) are at increased risk of severe disease, admission to an intensive care unit, and adverse pregnancy outcomes. In contrast, children typically experience a mild form of COVID-19. Nonetheless, there is a risk of multisystem inflammatory syndrome in children (MIS-C) following a SARS-CoV-2 infection. Case: A healthy 16-year-old, G1P0, presented with MIS-C in the second trimester and was treated with intravenous immunoglobulin. She subsequently developed transient mild hypertension, proteinuria, and transaminitis, which ultimately was thought to be secondary to MIS-C rather than pre-eclampsia. Discussion: MIS-C is an important COVID-19 complication in pediatric patients. This case offers guidance on expectant management of hypertension, transaminitis, and proteinuria during an episode of MIS-C in pregnant patients, as opposed to preterm delivery for a misdiagnosis of severe pre-eclampsia.

10.
J Perinatol ; 41(6): 1355-1363, 2021 06.
Article in English | MEDLINE | ID: mdl-33462338

ABSTRACT

OBJECTIVE: To assess whether prenatal exposure to marijuana (THC) results in abnormal amplitude integrated encephalograms (aEEG). DESIGN: This was a (2018-2020) prospective cohort study of prenatally THC-exposed newborns. Maternal and Infant demographics, urine (UDS) and umbilical cord drug screening (UCDS) were recorded. A limited channel continuous aEEG was obtained within 48 h of birth. Statistical analysis included univariate, multivariate, and logistical regression. RESULTS: A total of 30 mother/infant dyads were enrolled. 60% (18/30) of neonates had abnormal aEEGs with sleep wake cycle (SWC) disturbances (p < 0.001). UCDS Carboxy-THC pg/g levels were similar in infants with abnormal [1758 (296,2838)] and normal aEEG [1589 (332,2794)], p = 0.82. CONCLUSIONS: Absence of SWCs on aEEG is associated with prenatal THC exposure. While THC UCDS levels did not correlate to aEEG results future longitudinal studies are necessary to obtain detailed history of THC use and to evaluate its association with abnormal aEEG and the neurodevelopmental outcomes.


Subject(s)
Cannabis , Electroencephalography , Humans , Infant, Newborn , Mothers , Prospective Studies , Sleep
11.
Case Rep Womens Health ; 28: e00259, 2020 Oct.
Article in English | MEDLINE | ID: mdl-33088724

ABSTRACT

There are few case reports of utilization of therapeutic hypothermia during pregnancy, and most report successful maternal and fetal outcomes. There is no available evidence that supports withholding therapeutic hypothermia in these patients. There are no long-term data on neonatal outcomes. We report the case of a 28-year-old pregnant patient with long QT syndrome who experienced multiple cardiac arrests during the second trimester and underwent therapeutic hypothermia, cardiac ablation, transvenous pacemaker placement, and placement of an implantable cardioverter defibrillator (ICD). She subsequently delivered a viable infant at term. The evidence seems to support the use of hypothermia during pregnancy, but patients should be counseled about the unknown maternal and fetal risks and long-term neonatal outcomes. Decisions to utilize therapeutic hypothermia should be made on an individual basis.

12.
J Med Cases ; 11(6): 157-159, 2020 Jun.
Article in English | MEDLINE | ID: mdl-34434389

ABSTRACT

Sickle cell disease (SCD) can pose serious maternal and fetal risk in pregnancy. Transfusion, both during and outside of pregnancy, can improve patient morbidity and mortality but carries risk of alloimmunization, complicating future management. This case describes a 29-year-old gravida 1, para 0 woman with sickle cell anemia and rare red blood cell alloantibody (anti-Rh46) who presented with severe vaso-occlusive crisis at 29 weeks with hemoglobin of 7.6 g/dL. Only one unit of compatible blood existed in the country. Planning for transfusion with least-incompatible blood was made. She ultimately underwent cesarean section at 31 weeks and 2 days for abnormal fetal testing. This case highlights that blood products should be utilized judiciously because their adverse effects, like alloimmunization, can increase patient morbidity and mortality.

13.
J Assist Reprod Genet ; 34(11): 1445-1448, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28801781

ABSTRACT

PURPOSE: Hematopoietic stem cell transplantation (HSCT) is a cure for sickle cell disease (SCD) but frequently results in permanent sterility. The complications associated with oocyte cryopreservation and risks of future pregnancy are increased in SCD patients. This case report discusses risk reduction strategies and includes a literature review of pregnancy after HSCT. CASE: A 23-year-old woman underwent ovarian stimulation for fertility preservation resulting in cancelation due to acute pain crisis. She underwent a successful oocyte retrieval after exchange transfusion to decrease her hemoglobin S to 30%. This is the second report of a pain crisis in a woman with SCD undergoing oocyte banking. CONCLUSION(S): Women with SCD undergoing fertility preservation may be at increased risk of complications from ovarian stimulation. Risks in pregnancy after HSCT should also be considered before proceeding with fertility preservation.


Subject(s)
Anemia, Sickle Cell/therapy , Fertility Preservation/methods , Hematopoietic Stem Cell Transplantation , Oocytes/growth & development , Adult , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/physiopathology , Cryopreservation/methods , Female , Humans , Oocytes/metabolism , Ovulation Induction/methods
15.
Fetal Diagn Ther ; 38(1): 35-40, 2015.
Article in English | MEDLINE | ID: mdl-25612889

ABSTRACT

INTRODUCTION: Twin-reversed arterial perfusion sequence is a rare complication of monochorionic pregnancies that is characterized by the presence of an acardiac mass perfused by an apparently normal pump twin. The risk of death to the pump twin has led to a range of therapeutic interventions aimed at separating their vascular connection. We report a novel application of microwave ablation for vessel coagulation in the treatment of twin-reversed arterial perfusion sequence. MATERIAL AND METHODS: Microwave ablation has been adopted by surgical subspecialties as a superior energy source for vessel and tissue ablation as it creates heat without a circuit and has less thermal spread. We describe the use of a 2.45-GHz microwave system using a 1.8-mm antenna to coagulate the intra-abdominal portion of umbilical vessels of the acardiac mass. RESULTS: We report 6 cases of twin-reversed arterial perfusion sequence treated by microwave ablation. All patients were treated with microwave ablation with successful coagulation of intra-abdominal umbilical cord vessels of the acardiac mass with cessation of flow. DISCUSSION: Microwave ablation is an excellent energy source for vessel coagulation due to its thermal properties and can be used effectively in the treatment of twin-reversed arterial perfusion sequence.


Subject(s)
Catheter Ablation/methods , Fetal Heart/diagnostic imaging , Fetofetal Transfusion/surgery , Umbilical Arteries/surgery , Umbilical Cord/surgery , Female , Fetofetal Transfusion/diagnostic imaging , Humans , Pregnancy , Pregnancy Reduction, Multifetal , Treatment Outcome , Ultrasonography, Prenatal , Umbilical Arteries/diagnostic imaging , Umbilical Cord/diagnostic imaging
16.
Arch Clin Neuropsychol ; 21(2): 175-84, 2006 Feb.
Article in English | MEDLINE | ID: mdl-16307864

ABSTRACT

Children with velocardiofacial syndrome (VCFS; N=14) and a comparison group of siblings (N=8) underwent comprehensive neuropsychological assessment to examine the relationship between cognitive functioning and psychopathology. Significant group differences were obtained on tests of full scale and verbal intellectual functioning and perceptual-motor skills. With the exception of performance on tests of attention and executive functioning, children with VCFS displayed a profile consistent with nonverbal learning disability (NLD). However, within group comparisons revealed significantly poorer visuospatial intellectual and nonverbal memory functioning in sibling controls as well. No significant group differences were obtained on tests of motor speed, academic, language, attention, memory, or executive functioning, with significant variability in children with VCFS frequently accounting for the lack of robust differences. Parent-report measures revealed profiles consistent with ADHD. No clinically significant symptoms of psychosis, depression or anxiety were noted on either self- or parent-report measures. Wisconsin Card Sorting Test performance was found to be highly and negatively correlated with the Thought Problems subscale of the Child Behavior Checklist (CBCL) for VCFS children only, suggesting a possible at-risk indicator for later onset psychopathology.


Subject(s)
Chromosomes, Human, Pair 21/genetics , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , DiGeorge Syndrome , Mental Disorders/diagnosis , Mental Disorders/epidemiology , Phenotype , DiGeorge Syndrome/epidemiology , DiGeorge Syndrome/genetics , DiGeorge Syndrome/psychology , Female , Gene Deletion , Humans , In Situ Hybridization, Fluorescence , Male , Neuropsychological Tests , Observer Variation , Parents , Severity of Illness Index
17.
Child Neuropsychol ; 11(1): 55-71, 2005 Feb.
Article in English | MEDLINE | ID: mdl-15823983

ABSTRACT

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.


Subject(s)
Chromosomes, Human, Pair 22/genetics , DiGeorge Syndrome , Gene Deletion , Learning Disabilities/etiology , Memory Disorders/etiology , Nerve Net/physiopathology , Prefrontal Cortex/physiopathology , Adolescent , Brain/abnormalities , Brain/physiopathology , Child , Chromosome Aberrations , DiGeorge Syndrome/complications , DiGeorge Syndrome/genetics , DiGeorge Syndrome/physiopathology , Diagnostic and Statistical Manual of Mental Disorders , Female , Humans , Learning Disabilities/diagnosis , Male , Memory Disorders/diagnosis , Mental Recall , Neuropsychological Tests , Prefrontal Cortex/abnormalities
18.
Genet Med ; 7(3): 191-7, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15775755

ABSTRACT

PURPOSE: To describe the impact of Myriad Genetics, Inc.'s direct-to-consumer advertising (DTC-ad) campaign on cancer genetic services within two Managed Care Organizations, Kaiser Permanente Colorado (KPCO), Denver, Colorado, where the ad campaign occurred, and Henry Ford Health System (HFHS), Detroit, Michigan, where there were no advertisements. METHODS: The main outcome measures were the changes in number and pretest mutation probability of referrals approved for cancer genetic services at KPCO and HFHS during the campaign versus the year prior, and mutation probability of those undergoing testing. RESULTS: At KPCO, referrals increased 244% during the DTC-ad compared to the same time period a year earlier (P value<0.001). The proportion of referrals at high pretest probability of a mutation (10% or greater) dropped from 69% the previous year to 48% during the campaign (P value<0.001). There was no significant change in pretest mutation probability among women who underwent testing between the two time periods. HFHS reported no significant change between the two time periods for numbers or mutation probability of referrals, or for mutation probability of women tested. CONCLUSION: The DTC-ad caused significant increase in demand for cancer genetic services. In the face of potential future DTC-ad for inherited cancer risk, providers and payers need to consider the delivery of genetic services and genetic education for persons of all risk levels.


Subject(s)
Advertising , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Genetic Testing/statistics & numerical data , Health Knowledge, Attitudes, Practice , Health Promotion , Managed Care Programs , Adult , Aged , Aged, 80 and over , Breast Neoplasms/prevention & control , Female , Genes, BRCA1/physiology , Genes, BRCA2/physiology , Humans , Male , Middle Aged , Research Design
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