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BMC Musculoskeletal Disorders Nov 2020The purpose of this study was to prospectively recruit patients treated with limb malformation and to explore the prevalence and the clinical and epidemiological...
BACKGROUND
The purpose of this study was to prospectively recruit patients treated with limb malformation and to explore the prevalence and the clinical and epidemiological features of Heart-Hand Syndrome (HHS) in China.
METHODS
The consecutive patients treated for congenital upper limb malformation in Beijing Ji Shui Tan Hospital from October 1st, 2016 to October 1st, 2019 were prospectively recruited. We reviewed the patients' medical records and identified patients with abnormal electrocardiogram (ECG) and/or abnormal ultrasonic cardiogram as well as their basic demographic and clinical characteristics.
RESULTS
A total 1653 (1053 male and 600 female) patients with congenital upper extremity malformations were prospectively recruited. Among them, 200 (12.1%) had abnormal ultrasonic cardiogram (181patients, 10.9%) and/or abnormal ECG (19 patients, 1.1%). The commonest type of abnormal heart structure was atrial septal defect (69/181 38.1%), and the commonest abnormal ECG was wave patterns (7/19, 36.8%). HHS patients had a higher comorbidity rate (11%) than non-HHS patients (6.9%). Patients with HHS were classified into four groups by the types of congenital upper extremity malformations, among which the most common group was thumb type (121/200, 60.5%).
CONCLUSIONS
HHS occurred frequently among patients with congenital upper extremity malformation in China, particularly for those with multiple congenital malformations. The commonest type of hand malformations of HHS patients was thumb malformation.
Topics: Abnormalities, Multiple; China; Female; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Male; Upper Extremity Deformities, Congenital
PubMed: 33238988
DOI: 10.1186/s12891-020-03813-1 -
International Journal of Molecular... Jun 2021Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent... (Review)
Review
Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the and genes, encoding, respectively, ASC-1 and ASCC1, two subunits of the ASC-1 (Activating Signal Cointegrator-1) complex. This complex is a poorly known transcriptional coregulator involved in transcriptional, post-transcriptional or translational activities. Inherited defects in components of the ASC-1 complex have been associated with several autosomal recessive phenotypes, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy). Additionally, antenatal bone fractures were present in the reported patients with mutations. Functional studies revealed that the ASC-1 subunit is a novel regulator of cell cycle, proliferation and growth in muscle and non-muscular cells. In this review, we summarize and discuss the available data on the clinical and histopathological phenotypes associated with inherited defects of the ASC-1 complex proteins, the known genotype-phenotype correlations, the ASC-1 pathophysiological role, the puzzling question of motoneuron versus primary muscle involvement and potential future research avenues, illustrating the study of rare monogenic disorders as an interesting model paradigm to understand major physiological processes.
Topics: Carrier Proteins; Congenital Abnormalities; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Multiprotein Complexes; Mutation; Neuromuscular Diseases; Transcription Factors
PubMed: 34204919
DOI: 10.3390/ijms22116039 -
Fertility and Sterility Mar 2022Uterine transplantation has proven to be a viable solution in cases of absolute uterine factor infertility. Performing uterine explant surgery is one of the most...
OBJECTIVE
Uterine transplantation has proven to be a viable solution in cases of absolute uterine factor infertility. Performing uterine explant surgery is one of the most difficult gynecologic surgical challenges owing to the complexity of the uterine vascular system. The goal of this video is to demonstrate uterine explant surgery and highlight the critical anatomy involved in this procedure.
DESIGN
In this video, we display, narrate, and illustrate key portions of right pelvic dissection, which was subsequently performed bilaterally to achieve hysterectomy from a living donor for the purpose of uterine transplantation.
SETTING
University hospital.
PATIENT(S)
The donor was a 39-year-old woman, and the receptor sister suffers from Rokitansky syndrome. A careful right site pelvic dissection was visualized in this operation during a hysterectomy with the aim of performing a uterine graft implantation in a living donor (Research Ethics Committee and the Assistance Ethics Committee of Hospital Clínic de Barcelona [HCB/2016/0111] and Bioethics Committee of Catalunya Study included in ClinicalTrials.org registry [NCT04314869]).
INTERVENTION(S)
The donor's surgery was performed entirely using robotic surgery (DaVinci Xi, Intuitive Survival Inc.).
MAIN OUTCOME MEASURE(S)
Assessment of uterine graft transplant viability.
RESULT(S)
Good quality arterial and venous pedicles were obtained during the surgery. The difficulty of this procedure is the extensive vascular dissection that has to be done to isolate the veins that drain the uterus until the hypogastric vein.
CONCLUSION(S)
Pelvic anatomy dissection for obtaining the graft from the donor in uterus transplantation is complex, and robotic-assisted laparoscopic surgery may help to provide a clear and more precise visualization.
Topics: 46, XX Disorders of Sex Development; Adult; Congenital Abnormalities; Female; Humans; Living Donors; Mullerian Ducts; Robotic Surgical Procedures; Uterus
PubMed: 35058048
DOI: 10.1016/j.fertnstert.2021.11.026 -
Upsala Journal of Medical Sciences May 2020Over the past 40 years access and effectiveness of assisted reproductive technologies (ART) have increased, and to date more than 8 million children have been... (Review)
Review
Over the past 40 years access and effectiveness of assisted reproductive technologies (ART) have increased, and to date more than 8 million children have been conceived after ART globally. Most pregnancies resulting from ART are uncomplicated and result in the birth of healthy children. Yet, it is well known that pregnancies following ART are more likely to be affected by obstetric complications such as hypertensive disorders in pregnancy, preterm birth, and low birth weight compared with spontaneously conceived pregnancies. ART children are also at increased risk of birth defects. The majority of the problems arise as a result of multiple pregnancies and can be reduced by transferring a single embryo, thereby avoiding multiple pregnancies. New ART technologies are constantly introduced, and monitoring of the health of ART children is crucial.
Topics: Congenital Abnormalities; Female; Humans; Infant, Low Birth Weight; Infant, Newborn; Pregnancy; Pregnancy Complications; Reproductive Techniques, Assisted
PubMed: 32124667
DOI: 10.1080/03009734.2020.1726534 -
JNMA; Journal of the Nepal Medical... Nov 2022Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The...
UNLABELLED
Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early diagnosis of lissencephaly and genetic counselling can be made in suspected cases and further possible interventions can be taken. Also, regular follow-up, monitoring, and better conservative management lead to a better prognosis.
KEYWORDS
congenital abnormalities; hypothyroidism; lissencephaly; neuronal migration disorders.
Topics: Female; Humans; Child; Congenital Hypothyroidism; Lissencephaly; Classical Lissencephalies and Subcortical Band Heterotopias; Phenotype
PubMed: 36705174
DOI: 10.31729/jnma.7893 -
Fertility and Sterility Feb 2021
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Humans; Mullerian Ducts
PubMed: 33419516
DOI: 10.1016/j.fertnstert.2020.12.007 -
Public Health Reports (Washington, D.C.... 2020The Arabic-speaking population is increasing in Europe and North America. Evidence suggests that Arab migrants have a greater risk of adverse birth outcomes than...
OBJECTIVES
The Arabic-speaking population is increasing in Europe and North America. Evidence suggests that Arab migrants have a greater risk of adverse birth outcomes than nonmigrants, but the risk of stillbirth is largely understudied. We examined inequality in stillbirth rates between Arab women and the French and English majority of women in Quebec, Canada.
METHODS
We conducted a retrospective study of all births in Quebec from 1981 through 2015. We computed stillbirth rates by period and cause of death, and we used log binomial regression to estimate the association between Arabic mother tongue and stillbirth, adjusted for maternal characteristics.
RESULTS
Stillbirth rates per 1000 births overall were lower among women with Arabic mother tongue (3.89) than among women with French or English mother tongue (4.52), and rates changed little over time. However, Arabic-speaking women from Arab countries had a higher adjusted risk of stillbirth than French- or English-speaking women (risk ratio = 1.23; 95% confidence interval, 1.07-1.42). Congenital anomalies, termination of pregnancy, and undetermined causes contributed to a disproportionate number of stillbirths among women with Arabic mother tongue compared with the French- and English-speaking majority.
CONCLUSIONS
Arabic-speaking women from Arab countries have higher risks of stillbirth compared with the French and English majority in Quebec. Strategies to reduce stillbirth risk among Arabic speakers should focus on improving identification of causes of death.
Topics: Abortion, Induced; Adult; Arabs; Cause of Death; Congenital Abnormalities; Emigrants and Immigrants; Female; Humans; Language; Male; Pregnancy; Quebec; Retrospective Studies; Stillbirth
PubMed: 31968204
DOI: 10.1177/0033354919900894 -
Birth Defects Research Aug 2020In recent months, various public health measures have been implemented throughout the world in response to the coronavirus disease 2019 (COVID-19) pandemic. This... (Review)
Review
In recent months, various public health measures have been implemented throughout the world in response to the coronavirus disease 2019 (COVID-19) pandemic. This outbreak, and the subsequent containment policies, may have a range of potential short- and long-term impacts on the monitoring and surveillance of other conditions, such as birth defects. In this commentary, we provide a perspective on these potential impacts on birth defects surveillance and analysis. We discuss possible effects on clinical birth defect diagnoses, routine birth defects surveillance system activities, and epidemiologic considerations, as well as opportunities for mitigating the impact of COVID-19. Like many other sectors of public health and medicine, birth defects surveillance programs may be faced with organizational and methodological obstacles in the wake of a changing landscape. A better understanding of these potential challenges faced by birth defects surveillance programs could facilitate better planning and collaboration across programs to overcome barriers to core activities and to prepare for novel opportunities for research and prevention.
Topics: Betacoronavirus; COVID-19; Congenital Abnormalities; Coronavirus Infections; Female; Humans; Infectious Disease Transmission, Vertical; Pandemics; Pneumonia, Viral; Population Surveillance; Pregnancy; Pregnancy Complications, Infectious; SARS-CoV-2; United States
PubMed: 32415915
DOI: 10.1002/bdr2.1710 -
Journal of Translational Medicine Jan 2020During pregnancy in humans, the physiology of the mother and foetus are finely regulated by many factors. Inappropriate regulation can result in pregnancy disorders,... (Review)
Review
During pregnancy in humans, the physiology of the mother and foetus are finely regulated by many factors. Inappropriate regulation can result in pregnancy disorders, such as complications and foetal abnormalities. The early prediction or accurate diagnosis of related diseases is a concern of researchers. Liquid biopsy can be analysed for circulating cells, cell-free nucleic acids, and exosomes. Because exosomes can be detected in the peripheral blood of women in early pregnancy, these vesicles and their contents have become the focus of early prediction or diagnostic biomarker research on pregnancy complications and foetal developmental disorders. In this review, we focus on recent studies addressing the roles of peripheral blood exosomes and circulating miRNAs in pregnancy complications and in pregnancies with abnormal foetal developmental disorders, with particular attention paid to the potential application value of exosomes and circulating miRNAs as disease-specific biomarkers.
Topics: Circulating MicroRNA; Congenital Abnormalities; Exosomes; Female; Humans; Liquid Biopsy; MicroRNAs; Pregnancy; Pregnancy Complications
PubMed: 31969163
DOI: 10.1186/s12967-020-02227-w -
Nature Reviews. Cancer Jul 2020Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and death.... (Review)
Review
Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and death. Although oncoproteins were discovered many years ago and have been widely studied in the context of cancer, the recent use of high-throughput sequencing techniques has led to the identification of cancer-associated mutations in other conditions, including many congenital disorders. These syndromes offer an opportunity to study oncoprotein signalling and its biology in the absence of additional driver or passenger mutations, as a result of their monogenic nature. Moreover, their expression in multiple tissue lineages provides insight into the biology of the proto-oncoprotein at the physiological level, in both transformed and unaffected tissues. Given the recent paradigm shift in regard to how oncoproteins promote transformation, we review the fundamentals of genetics, signalling and pathogenesis underlying oncoprotein duality.
Topics: Animals; Cell Transformation, Neoplastic; Congenital Abnormalities; Disease Models, Animal; Gene-Environment Interaction; Genetic Diseases, Inborn; Humans; Mice; Mutation; Neoplasms; Proto-Oncogene Proteins; Signal Transduction
PubMed: 32341551
DOI: 10.1038/s41568-020-0256-z