Lewis B. Holmes
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View article: Long-term outcomes of children born with neural-tube defects in Botswana
Long-term outcomes of children born with neural-tube defects in Botswana Open
NTDs are a significant cause of early child mortality and disability in Botswana, but there are limited systems in place to support these children. Interventions that include close monitoring of infants with major NTDs after birth, earlier…
View article: Clinical referral to the NHS following multi-cancer early detection test results from the NHS-Galleri trial
Clinical referral to the NHS following multi-cancer early detection test results from the NHS-Galleri trial Open
Introduction The large, randomised, controlled NHS-Galleri trial (NCT05611632) is assessing the clinical utility of a multi-cancer early detection (MCED) test for asymptomatic cancer screening in England. We describe how we enabled the eff…
View article: Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012)
Elective Terminations Because of Fetal Abnormalities: Findings in A Tertiary Maternity Center Over 41 Years (1972–2012) Open
Finding abnormalities in a fetus by prenatal testing during pregnancy is a common reason why parents choose to terminate a pregnancy. A malformations surveillance program of all births at a tertiary center in Boston was used to identify ea…
View article: Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia
Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia Open
Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multid…
View article: Personal journeys to and in human genetics and dysmorphology
Personal journeys to and in human genetics and dysmorphology Open
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to…
View article: Weight Changes and Adverse Pregnancy Outcomes With Dolutegravir- and Tenofovir Alafenamide Fumarate–Containing Antiretroviral Treatment Regimens During Pregnancy and Postpartum
Weight Changes and Adverse Pregnancy Outcomes With Dolutegravir- and Tenofovir Alafenamide Fumarate–Containing Antiretroviral Treatment Regimens During Pregnancy and Postpartum Open
BACKGROUND: We evaluated associations between antepartum weight change and adverse pregnancy outcomes and between antiretroviral therapy (ART) regimens and week 50 postpartum body mass index in IMPAACT 2010. METHODS: Women with human immun…
View article: Epilepsy‐pregnancy registries: An update
Epilepsy‐pregnancy registries: An update Open
This report is the first comprehensive update on the activities of existing epilepsy‐pregnancy registries since 2010. The primary aim of these registries, which were initiated by independent international research groups some 25 years ago,…
View article: Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine Open
Exposure at conception to phenytoin (PHT), phenobarbital (PB), and carbamazepine (CBZ) has been associated with several different effects on the fetus, including hypoplasia of the distal phalanges, dysmorphic facial features, and structura…
View article: Personal journeys to and in human genetics and dysmorphology
Personal journeys to and in human genetics and dysmorphology Open
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to…
View article: Weight Changes and Adverse Pregnancy Outcomes With Dolutegravir- and Tenofovir Alafenamide Fumarate–Containing Antiretroviral Treatment Regimens During Pregnancy and Postpartum
Weight Changes and Adverse Pregnancy Outcomes With Dolutegravir- and Tenofovir Alafenamide Fumarate–Containing Antiretroviral Treatment Regimens During Pregnancy and Postpartum Open
Background We evaluated associations between antepartum weight change and adverse pregnancy outcomes and between antiretroviral therapy (ART) regimens and week 50 postpartum body mass index in IMPAACT 2010. Methods Women with human immunod…
View article: Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in <scp>IQ</scp>
Facial dysmorphology in children exposed in pregnancy to anticonvulsant medications correlates with deficits in <span>IQ</span> Open
Some children exposed at conception to the antiepileptic drugs (AEDs) phenytoin (PHT), phenobarbital (PB), and carbamazepine (CBZ) have changes in their midface and fingers. It has been suggested that the anticonvulsant‐exposed child with …
View article: Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma Open
Two children are presented who have a distinct syndrome of multiple buccolingual frenula, a stiff and short fifth finger with small nails, a hypothalamic hamartoma, mild to moderate neurological impairment, and mild endocrinological sympto…
View article: The North American Antiepileptic Drug Pregnancy Registry: A Canadian Subgroup Analysis
The North American Antiepileptic Drug Pregnancy Registry: A Canadian Subgroup Analysis Open
Background: The North American AED Pregnancy Registry (NAAPR) provides crucial data for understanding the risks of antiepileptic drug (AED) exposure in pregnancy. This study aims to quantify the Canadian contribution to NAAPR and compare A…
View article: Terminal transverse limb defects
Terminal transverse limb defects Open
Terminal transverse limb defects are a relatively uncommon (1 in 20,000), but distinctive, limb deformity that typically involves one arm and much less frequently, one foot. The fact that it does not have a separate Mendelian Inheritance i…
View article: Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings
Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings Open
Background Surveillance programs in low‐ and middle‐income countries (LMICs) have difficulty in obtaining accurate information about congenital anomalies. Methods As part of the ZikaPLAN project, an International Committee developed an app…
View article: Limited surface examination to evaluate potential teratogens in a resource‐limited setting
Limited surface examination to evaluate potential teratogens in a resource‐limited setting Open
Background To determine the frequency of malformations that would be identified in the limited surface examination of a newborn by the delivering nurse midwife in a resource‐limited setting. Methods The limited surface examination will ide…
View article: Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Open
Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that pr…
View article: Neural-Tube Defects and Antiretroviral Treatment Regimens in Botswana
Neural-Tube Defects and Antiretroviral Treatment Regimens in Botswana Open
The prevalence of neural-tube defects was slightly higher in association with dolutegravir exposure at conception than with other types of ART exposure at conception (3 per 1000 deliveries vs. 1 per 1000 deliveries). (Funded by the Nationa…
View article: The Impact of Technology on the Diagnosis of Congenital Malformations
The Impact of Technology on the Diagnosis of Congenital Malformations Open
As technology improves and becomes more widely accessible, more subclinical congenital malformations are being detected. Using a cohort of 1,780,156 pregnant women and their offspring nested in the 2000–2013 US Medicaid Analytic eXtract, w…
View article: Comparative safety of dolutegravir-based or efavirenz-based antiretroviral treatment started during pregnancy in Botswana: an observational study
Comparative safety of dolutegravir-based or efavirenz-based antiretroviral treatment started during pregnancy in Botswana: an observational study Open
National Institutes of Health.
View article: Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism
Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism Open
Background Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by an…
View article: Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana
Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana Open
Clinical Trials.gov NCT01229761.
View article: Issue Information
Issue Information Open
Cardiovascular Therapeutics (formerly Cardiovascular Drug Reviews) focuses on extensive reviews