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Cureus Nov 2022Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring...
Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring constrictions, digital defects, natural limb amputations, and visceral defects. The etiology of this defect is not fully understood. We present a full-term newborn boy who was born by vaginal delivery to a healthy mother. At birth, amniotic bands encircled and constricted his upper and lower limbs. At two and six months of gestation, the mother gave a unique obstetric history of recurrent exposure to her infected daughter, which was diagnosed later as a case of atypical . This raises suspicion that may play a critical role in the pathogenesis of ACB and the hypothesis related to its origin. The inquiry in our case is whether might have been a non-aberrant teratogen and caused subclinical chorioamnionitis that leads to early rupture of amniotic membranes and result in the proposed defects. As far as we know, this is the first case reported in the literature that combines gestational exposure to and postpartum isolated amniotic constrictions and minor digital defects in Saudi Arabia newborns. In addition, we discussed the possible underlying causes and reviewed the published literature on this defect.
PubMed: 36523735
DOI: 10.7759/cureus.31410 -
The Pan African Medical Journal 2022Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull...
[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report].
Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.
Topics: Infant; Infant, Newborn; Female; Humans; Cleft Lip; Cleft Palate; Amniotic Band Syndrome; Encephalocele; Coloboma; Leg; Universities; Eyelids; Toes
PubMed: 36338557
DOI: 10.11604/pamj.2022.42.251.33736 -
Global Pediatric Health 2022A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage-a rare finding-and abnormalities in all 4 limbs most consistent with...
A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage-a rare finding-and abnormalities in all 4 limbs most consistent with amniotic band syndrome. The caudal appendage was lateral to midline, measured 3 cm × 0.5 cm, and had no bony abnormalities or spinal cord tethering. Limb abnormalities consisted of brachydactyly, oligodactyly, and syndactyly. Renal and head ultrasounds and an echocardiogram were normal. Chromosomal microarray showed deletion of , which is not associated with a known phenotype. The multidisciplinary approach of managing this infant with the rare finding of a caudal appendage and limb abnormalities is presented.
PubMed: 36176488
DOI: 10.1177/2333794X221127545 -
Molecular Genetics & Genomic Medicine Sep 2022Complex chromosomal rearrangements (CCRs) are associated with high reproductive risk, infertility, abnormalities in offspring, and recurrent miscarriage in women. It is...
BACKGROUND
Complex chromosomal rearrangements (CCRs) are associated with high reproductive risk, infertility, abnormalities in offspring, and recurrent miscarriage in women. It is essential to accurately characterize apparently balanced chromosome rearrangements in unaffected individuals.
METHODS
A CCR young couple who suffered two spontaneous abortions and underwent labor induction due to fetal chromosomal abnormalities was studied using long-read sequencing(LRS), single-nucleotide polymorphism (SNP) array, G-banding karyotype analysis (550-band resolution), and Sanger sequencing.
RESULTS
SNP analysis of the amniotic fluid cells during the third pregnancy revealed a 9.9-Mb duplication at 7q21.11q21.2 and a 24.8-Mb heterozygous deletion at 13q21.1q31.1. The unaffected female partner was a carrier of a three-way CCR [46,XX,? ins(7;13)(q21.1;q21.1q22)t(2;13)(p23;q22)]. Subsequent LRS analysis revealed the exact breakpoint locations on the derivative chromosomes and the specific method of chromosome rearrangement, indicating that the CCR carrier was a more complex structural rearrangement comprising five breakpoints. Furthermore, LRS detected an inserted fragment of chromosome 13 in chromosome 7.
CONCLUSIONS
LRS is effective for analyzing the complex structural variations of the human genome and may be used to clarify the specific CCRs for effective genetic counseling and appropriate intervention.
Topics: Female; Humans; Pregnancy; Chromosome Aberrations; Chromosomes, Human, Pair 2; Nanopore Sequencing; Pyridinolcarbamate
PubMed: 35758276
DOI: 10.1002/mgg3.2011 -
International Journal of Surgery Case... Jun 2022Amniotic band syndrome is a rare disorder, which consists of a combination of malformations in which the main feature is the existence of an amniotic band that can...
Amniotic band syndrome is a rare disorder, which consists of a combination of malformations in which the main feature is the existence of an amniotic band that can envelop the limbs, the body wall, and/or the viscera. We report a case of an antenatal diagnosis of amniotic band syndrome in a 21-year-old female patient at 20 SA + 1 day, who had a medical abortion.
PubMed: 35567876
DOI: 10.1016/j.ijscr.2022.107096 -
BMJ Open May 2022To identify any associations between in utero exposure to five over-the-counter (non-prescription) analgesics (paracetamol, ibuprofen, aspirin, diclofenac, naproxen) and...
OBJECTIVES
To identify any associations between in utero exposure to five over-the-counter (non-prescription) analgesics (paracetamol, ibuprofen, aspirin, diclofenac, naproxen) and adverse neonatal outcomes.
DESIGN
Retrospective cohort study using the Aberdeen Maternity and Neonatal Databank.
PARTICIPANTS
151 141 singleton pregnancies between 1985 and 2015.
MAIN OUTCOME MEASURES
Premature delivery (<37 weeks), stillbirth, neonatal death, birth weight, standardised birthweight score, neonatal unit admission, APGAR score at 1 and 5 min, neural tube and amniotic band defects, gastroschisis and, in males, cryptorchidism and hypospadias.
RESULTS
83.7% of women taking over-the-counter analgesics reported first trimester use when specifically asked about use at their first antenatal clinic visit. Pregnancies exposed to at least one of the five analgesics were significantly independently associated with increased risks for premature delivery <37 weeks (adjusted OR (aOR)=1.50, 95% CI 1.43 to 1.58), stillbirth (aOR=1.33, 95% CI 1.15 to 1.54), neonatal death (aOR=1.56, 95% CI 1.27 to 1.93), birth weight <2500 g (aOR=1.28, 95% CI 1.20 to 1.37), birth weight >4000 g (aOR=1.09, 95% CI 1.05 to 1.13), admission to neonatal unit (aOR=1.57, 95% CI 1.51 to 1.64), APGAR score <7 at 1 min (aOR=1.18, 95% CI 1.13 to 1.23) and 5 min (aOR=1.48, 95% CI 1.35 to 1.62), neural tube defects (aOR=1.64, 95% CI 1.08 to 2.47) and hypospadias (aOR=1.27, 95% CI 1.05 to 1.54 males only). The overall prevalence of over-the-counter analgesics use during pregnancy was 29.1%, however it rapidly increased over the 30-year study period, to include over 60% of women in the last 7 years of the study. This makes our findings highly relevant to the wider pregnant population.
CONCLUSIONS
Over-the-counter (non-prescription) analgesics consumption during pregnancy was associated with a substantially higher risk for adverse perinatal health outcomes in the offspring. The use of paracetamol in combination with other non-steroidal anti-inflammatory drugs conferred the highest risk. The increased risks of adverse neonatal outcomes associated with non-prescribed, over-the-counter, analgesics use during pregnancy indicate that healthcare guidance for pregnant women regarding analgesic use need urgent updating.
Topics: Acetaminophen; Analgesics; Birth Weight; Cohort Studies; Female; Humans; Hypospadias; Infant, Newborn; Male; Perinatal Death; Pregnancy; Pregnancy Outcome; Premature Birth; Retrospective Studies; Stillbirth
PubMed: 35504638
DOI: 10.1136/bmjopen-2020-048092 -
Clinical Case Reports Mar 2022The amniotic band comprises disrupted amnion strands causing entrapment or entanglement of various fetal parts resulting in a spectrum of anomalies from digital band...
The amniotic band comprises disrupted amnion strands causing entrapment or entanglement of various fetal parts resulting in a spectrum of anomalies from digital band constriction or amputation to severe craniofacial/visceral defects and even fetal demise. We present a newborn infant with a rare, isolated ring constriction of the penis.
PubMed: 35340631
DOI: 10.1002/ccr3.5618 -
Nanotechnology, Science and Applications 2021The aim of this interdisciplinary study was to answer the question of whether active antioxidants as graphene oxide (GO), sodium ascorbate, and L-ascorbic acid modify at...
INTRODUCTION
The aim of this interdisciplinary study was to answer the question of whether active antioxidants as graphene oxide (GO), sodium ascorbate, and L-ascorbic acid modify at a molecular and supramolecular level the tissue of pathological amnion and the necrotic eschar degraded in thermal burn. We propose new solutions of modifiers based on GO that will become innovative ingredients to be used in transplants (amnion) and enhance regeneration of epidermis degraded in thermal burn.
METHODS
A Nicolet 6700 spectrophotometer with Omnic software and the EasiDiff diffusion accessory were used in FTIR spectroscopic analysis. A Nicolet Magna-IR 860 spectrometer with an FT Raman accessory was used to record the Raman spectra of the samples. The surface of the samples was examined using a Phenom ProX scanning electron microscope with an energy-dispersive X-ray spectroscopy detector to diagnose and illustrate morphological effects on skin and amnion samples. SAXS measurements were carried out with a compact Kratky camera equipped with the SWAXS optical system.
RESULTS
Characterisation of amide I-III regions, important for molecular structure, on both FTIR and FTR spectra revealed distinct shifts, testifying to organization of protein structure after GO modification. A wide lipid band associated with ester-group vibrations in phospholipids of cell membranes and vibrations of the carbonyl group of GO in the 1,790-1,720 cm band were observed in the spectra of thermally degraded and GO-modified epidermis and pathological amnion. SAXS studies revealed that GO caused a significant change in the structure of the burnt skin, but its influence on the structure of the amnion was weak.
CONCLUSION
Modification of burn-damaged epidermis and pathological amnion by means of GO results in stabilization and regeneration of tissue at the level of molecular (FTIR, FTR) and supramolecular (SAXS) interactions.
PubMed: 34908830
DOI: 10.2147/NSA.S343540 -
The Pan African Medical Journal 2021
Topics: Amniotic Band Syndrome; Clubfoot; Humans; Infant, Newborn
PubMed: 34539965
DOI: 10.11604/pamj.2021.39.169.30215