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Journal of the American Heart... Jun 2023Background In the palliative pathway of single-ventricle physiology, lymphatic abnormalities on T2-weighted magnetic resonance imaging have been shown after the Glenn...
Background In the palliative pathway of single-ventricle physiology, lymphatic abnormalities on T2-weighted magnetic resonance imaging have been shown after the Glenn operation. It is believed that postsurgical hemodynamic changes contribute to the lymphatic changes.However, little is known about how early these abnormalities occur. Our purpose was to determine if lymphatic abnormalities occur as early as before the Glenn operation. Methods and Results We retrospectively reviewed patients with single-ventricle physiology and a T2-weighted magnetic resonance imaging scan before their Glenn operation (superior cavopulmonary connection) at The Children's Hospital of Philadelphia from 2012 to 2022. Lymphatic perfusion patterns on T2-magnetic resonance imaging were categorized from type 1 (no supraclavicular T2-signal) to type 4 (supraclavicular, mediastinal, lung parenchymal T2-signal). Types 1 and 2 were considered normal variants. Distribution of lymphatic abnormalities were tabulated, as well as secondary outcomes including chylothorax and mortality. Comparison was done using analysis of variance, Kruskal-Wallis test, and Fisher's exact test. Seventy-one children were included: 30 with hypoplastic left heart syndrome and 41 with nonhypoplastic left heart syndrome. Lymphatic abnormalities were present before Glenn operation in 21% (type 3) and 20% (type 4), and normal lymphatic perfusion patterns (type 1-2) were seen in 59% of patients. Chylothorax was present in 17% (only types 3 and 4). Pre-Glenn mortality and mortality at any time was significantly increased when having a type 4 lymphatic abnormality compared with types 1 and 2 (=0.04). Conclusions Lymphatic abnormalities can be found on T2-weighted magnetic resonance imaging in children with single-ventricle physiology before their Glenn operation. Mortality and chylothorax were more prevalent with advancing grade of lymphatic abnormality.
Topics: Child; Humans; Infant; Retrospective Studies; Chylothorax; Treatment Outcome; Heart Defects, Congenital; Fontan Procedure; Univentricular Heart; Lymphatic Abnormalities; Magnetic Resonance Imaging; Heart Ventricles
PubMed: 37318013
DOI: 10.1161/JAHA.123.029376 -
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 -
Journal of Pediatric and Adolescent... Aug 2022Although it has been clearly stated that vaginal dilation must be considered the first-line treatment for clinical conditions characterized by an absent or hypoplastic...
Although it has been clearly stated that vaginal dilation must be considered the first-line treatment for clinical conditions characterized by an absent or hypoplastic vagina, mainly Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a great number of scientific papers on surgical vaginal reconstructions are reported every year. This wide variety of surgical techniques (more than 10) are recognized and performed worldwide, making it difficult to compare results and define an evidence-based approach. Standardized treatment should be considered even more important in the pediatric and adolescent population for the implications offered by the uterus transplantation scenario.
Topics: 46, XX Disorders of Sex Development; Adolescent; Child; Congenital Abnormalities; Conservative Treatment; Female; Humans; Mullerian Ducts; Vagina
PubMed: 35842237
DOI: 10.1016/j.jpag.2022.01.011 -
Pediatric Research Nov 2019Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are... (Review)
Review
Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are unavailable for most birth defects, physicians rely on imaging such as ultrasound and MRI. Biomarkers from human body fluids are considered a powerful diagnostic tool to assess human disease and health as it mirrors an individual's condition. Minimally invasive 'liquid biopsies' from blood samples are highly valuable for diagnosis, prognosis, risk assessment, and treatment of many conditions. Recent large-scale analysis ('omics') have enabled researchers to identify novel biomarkers in different areas. To accurately facilitate the early detection of congenital anomalies, the identification of biomarkers from maternal plasma should be promoted. This approach will uncover new opportunities in prenatal diagnosing and likely lead to a better understanding of the pathogenesis of congenital anomalies.
Topics: Biomarkers; Body Fluids; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 31091529
DOI: 10.1038/s41390-019-0429-1 -
European Journal of Pediatric Surgery :... Dec 2021
Topics: Congenital Abnormalities; Counseling; Genetic Counseling; Humans
PubMed: 34911127
DOI: 10.1055/s-0041-1739459 -
International Journal of Pediatric... Aug 2020Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external... (Review)
Review
INTRODUCTION
Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance.
PRESENTATION OF CASE
We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table.
DISCUSSION
CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age.
CONCLUSION
CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.
Topics: Congenital Abnormalities; Female; Humans; Infant; Mothers; Nose; Nose Diseases; Plastic Surgery Procedures; Recurrence; Respiratory Distress Syndrome, Newborn; Respiratory Tract Infections; Tracheostomy
PubMed: 32417666
DOI: 10.1016/j.ijporl.2020.110083 -
Indian Journal of Pathology &... 2021The "Ring-and-Sling" complex (RSC) comprises congenital tracheal stenosis and an abnormal origin/course of the left pulmonary artery. Based on clinical and imaging...
BACKGROUND
The "Ring-and-Sling" complex (RSC) comprises congenital tracheal stenosis and an abnormal origin/course of the left pulmonary artery. Based on clinical and imaging studies, the luminal narrowing is assumed to be as a result of rings cartilage (forming an "O").
AIMS
This is a postmortem based study of tracheal histology in infants after an autopsy encounter of a case of RSC.
SUBJECT AND METHODS
RSC was identified in an infant at autopsy. The tracheal histomorphology revealed the presence of cartilaginous plates (instead of rings) and fibro-elastotic proliferation at the site of trachealis muscle. These changes prompted a study on variations in the histology of the trachea (with no known anomaly) in 35 autopsied neonates and infants. The transverse sections of the trachea were taken at one or more levels (Level 1 - at the level of the thyroid, Level 2 - midway between the thyroid and the carina, and Level 3 - just above the carina.
STATISTICAL ANALYSIS
Epi-info software (v1.4.3, CD, US).
RESULTS
On histology, 83 sections showed the trachealis muscle on the posterior aspect. A single semicircular cartilage was identified in only 17 of the 83 sections studied (20.5%, 6 in level 1, 9 in level 2 and 2 in level 3). In the remaining 66 sections (79.5%), the cartilage was disposed as multiple plates, ranging in number from 2 to 10. No significant association was found between semicircular cartilage rings and age, sex, gestational age, and level of section (P < 0.05). However, 14 cases with sectioning at all three levels were taken into account; all levels showed more cartilaginous plates compared to single rings, which were more common at level 1 (P > 0.05).
CONCLUSIONS
The "ring" in RSC and normal infantile tracheas show cartilage plates with intermittent semicircular cartilage rings. These findings may have surgical implications for tracheal anomalies and bode favorable surgical outcomes.
Topics: Autopsy; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Male; Trachea; Tracheal Stenosis
PubMed: 34673586
DOI: 10.4103/IJPM.IJPM_363_20 -
Folia Medica Oct 2021Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone...
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.
Topics: 46, XX Disorders of Sex Development; Adult; Amenorrhea; Congenital Abnormalities; Female; Humans; Kidney; Mullerian Ducts; Urogenital Abnormalities; Young Adult
PubMed: 35851218
DOI: 10.3897/folmed.63.e63325 -
BJOG : An International Journal of... Oct 2019Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical... (Review)
Review
Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical self-dilation, surgical dilation, and surgical procedures involving skin or intestinal transplants. Subsequent uterus transplantation is necessary to enable pregnancy. We review the main characteristics, advantages, and disadvantages of established neovagina creation methods and discuss their suitability regarding subsequent uterus transplantation. Suitability criteria include sufficient vaginal length, absence of previous major intra-abdominal surgery, a natural vaginal axis, and a natural vaginal epithelium. In conclusion, Vecchietti-based laparoscopically assisted neovagina creation provides ideal functional conditions for uterus transplantation. Nonsurgical self-dilation and Wharton-Sheares-George vaginoplasty may also be suitable. TWEETABLE ABSTRACT: This review discusses the main advantages and disadvantages of neovagina creation methods with regard to subsequent uterus transplantation.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Gynecologic Surgical Procedures; Humans; Mullerian Ducts; Patient Selection; Preoperative Care; Surgically-Created Structures; Transplants; Treatment Outcome; Uterus; Vagina
PubMed: 31338951
DOI: 10.1111/1471-0528.15888 -
Genes Nov 2021To gain insight into the aetiology of posterior subcapsular congenital cataract from the perspective of transcriptional changes, we conducted an mRNA sequencing analysis...
To gain insight into the aetiology of posterior subcapsular congenital cataract from the perspective of transcriptional changes, we conducted an mRNA sequencing analysis of the lenses in posterior subcapsular congenital cataract patients and in normal children. There were 1533 differentially expressed genes from 19,072 genes in the lens epithelial cells of the posterior subcapsular congenital cataract patients compared to in the normal controls at a cut-off criteria of |log2 fold change| of >1 and a -value of <0.05, including 847 downregulated genes and 686 upregulated genes. To further narrow down the DEGs, we utilised the stricter criteria of |log2 fold change| of >1 and an FDR value of <0.05, and we identified 551 DEGs, including 97 upregulated genes and 454 downregulated genes. This study also identified 1263 differentially expressed genes of the 18,755 genes in lens cortex and nuclear fibres, including 646 downregulated genes and 617 upregulated genes. The downregulated genes in epithelial cells were significantly enriched in the structural constituent of lenses, lens development and lens fibre cell differentiation. After filtering the DEGs using the databases iSyTE and Cat-Map, several high-priority candidate genes related to posterior subcapsular congenital cataract such as , and were identified. The findings of our study may provide a deeper understanding of the mechanisms of posterior subcapsular congenital cataract and help in the prevention and treatment of this disease.
Topics: Cataract; Cell Differentiation; Child; Child, Preschool; Congenital Abnormalities; Gene Expression Profiling; Gene Expression Regulation; High-Temperature Requirement A Serine Peptidase 1; Humans; Infant; Lens, Crystalline; Membrane Proteins; Transcriptome
PubMed: 34946854
DOI: 10.3390/genes12121904