Objective: Fetal echoic bowel can be a normal second trimester ultrasonographic finding which usually disappears by 20 weeks on serial sonograms. Recent studies have suggested a possible association ...of hyperechoic fetal bowel with chromosomopathies and cystic fibrosis. The aim of our study is to determine the incidence of chromosomopathies and cystic fibrosis mutations among the fetuses with isolated hyperechoic bowel.
Methods: Sixteen fetuses with isolated echoic bowel were detected: 13 fetuses S20 weeks gestation (group I) and 3 fetuses at 20-26 weeks gestation (group II). Cytogenetic studies were performed in all 16 cases and 11 families had deoxyribonucleic acid-based risk assessment for cystic fibrosis. The echogenity of bowel was that of surrounding bone.
Results: Two cases of trisomy 21 and 1 case of trisomy 13 were detected (18.7%). The other ultrasonographic markers begin to appear after 21 weeks gestation in fetuses with trisomy 13. Two of 3 pregnant women with pathological karyotype were younger than 35 years. One of 11 cases (9%) was found to be a heterozygote carrier for ΔF508 mutation.
Conclusions: Isolated hyperechoic bowel in the second trimester was found to be associated with a significantly higher risk of fetal aneuploidy.
IntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer ...transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer's disease (AD).Case descriptionWe present a Caucasian female patient born from a non-consanguineous marriage, who was diagnosed with agammaglobulinemia at the age of 15 years when the immunoglobulin replacement therapy was started. During the following seventeen years, she was treated for recurrent respiratory and intestinal infections. At the age of 33 years, the diagnosis of celiac-like disease was established. Five years later progressive cognitive deterioration, unstable gait, speech disturbances, and behavioral changes developed. Comprehensive microbiological investigations were negative, excluding possible infective etiology. Brain MRI, 18FDG-PET-CT, and neuropsychological testing were suggestive for a diagnosis of a frontal variant of AD. Clinical exome sequencing revealed the presence of a novel frameshift heterozygous variant c.441dup in exon 4 of the SPI1 gene. Despite intensive therapy, the patient passed away a few months after the onset of the first neurological symptoms.ConclusionWe describe the first case of PU.MA patient presenting with a rapidly progressive neurocognitive deterioration. The possible role of microglial dysfunction in patients with SPI1 mutation could explain their susceptibility to neurodegenerative diseases thus highlighting the importance of genetic testing in patients with inborn errors of immunity. Since PU.MA represents a newly described form of agammaglobulinemia, our case expands the spectrum of manifestations associated with SPI1 mutation.
The aim of this study was to determine if insertion-deletion polymorphism of angiotensin-converting enzyme is a risk
factor for the development of preeclampsia. Sixty women with preeclampsia and 50 ...normotensive pregnant women were
included in this study. Preeclampsia was defined as blood pressure > 140/90 mmHg in a previously normotensive women
with proteinuria >300 mg/L in a 24-hours. Twelve women also had preeclampsia in previous pregnancy. The genotyping
of polymorphism in the intron 16 of the angiotensin-converting enzyme was performed by the polymerase chain reaction
followed by the agarose electrophoresis. The patients were divided into three groups according to the presence (I)
or absence (D) of insertional polymorphism (II, ID, and DD). Genotype distribution and allele frequencies were compared
by Mantel-Haenszel c
2 testing. The frequency of DD genotype was not significantly higher in women with preeclampsia
(26/60)than in the control group (14/50, p=0.096). The D allele frequency was significantly higher in 17 women with
preeclampsias who required delivery before 34 weeks of pregnancy (0.735), than in 43 women in whom obstetric complications
took place after 34 weeks of pregnancy (0.56, p=0.036). The D allele frequency was 0.83 in women having recurrent
preeclampsia, i.e. significantly higher compared with women, who were for the first time, experienced preeclampsia
(0.57, p=0.013). This study showed a significantly positive association between D allele frequency and risk of recurrent
preeclampsia and preterm delivery before 34 weeks of pregnancy. The deletion genotype could be an important contributing
factor for an early onset and recurrent preeclampsia.
When does a fetus become a person? KURJAK, ASIM; TIKVICA LEUTIC, ANA; MISKOVIC, BERIVOJ ...
Periodicum biologorum,
09/2009, Volume:
111, Issue:
3
Web Resource
Open access
One of the most controversial questions in modern medicine, bioethics
and science is dilemma about the fetus being a person. To discuss that questionone must first define personality. The list of ...necessary conditions for beinga person includes features like intelligence, self-awareness, self controletc. The infrastructures of those abilities reside in the cortex that is well developedfrom the 30th week of gestation. From that point of view, every neonateor fetus during the third trimester of gestation is a person, in a moral and ethical context. On the other hand, legal capacity is the ability of a natural
person to enjoy rights and obligations. The human being becomes a
natural person at the moment of birth. If human life is worth being protected by law only after delivery, for what reason does perinatology exist and perinatologists fight for? Lots of medical treatments, interventions and even surgeries during pregnancy are done for the benefit of the unborn, and not due to the mother’s health. From the legal perspective, it is better for a child to be born prematurely than at the right time, since from the moment of birth the child’s life is protected by law. From the medical point of view, this
must seem absurd, as the best environment for a child to develop is the mother’s womb during all nine months of the pregnancy. All the known evidence support the human fetus being a true ontological human individual and consequently a human person in fact if not in law.
