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Nature Reviews. Disease Primers Nov 2023Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary... (Review)
Review
Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life. Although surgical treatment is the gold standard for symptomatic CLMs, a consensus on asymptomatic cases has not been reached. Resection, either thoracoscopically or through thoracotomy, minimizes the risk of local morbidity, including recurrent infections and pneumothorax, and avoids the risk of malignancies that have been associated with CPAM, bronchopulmonary sequestration and bronchogenic cyst. However, some surgeons suggest expectant management as the incidence of adverse outcomes, including malignancy, remains unknown. In either case, a planned follow-up and a proper transition to adult care are needed. The biological mechanisms through which some CLMs may trigger malignant transformation are under investigation. KRAS has already been confirmed to be somatically mutated in CPAM and other genetic susceptibilities linked to tumour development have been explored. By summarizing current progress in CLM diagnosis, management and molecular understanding we hope to highlight open questions that require urgent attention.
Topics: Infant; Female; Humans; Pregnancy; Bronchogenic Cyst; Bronchopulmonary Sequestration; Lung Diseases; Lung; Cystic Adenomatoid Malformation of Lung, Congenital
PubMed: 37919294
DOI: 10.1038/s41572-023-00470-1 -
Hand Surgery & Rehabilitation Apr 2024Congenital nail disorders are an uncommon presenting symptom which can be difficult to diagnose and manage. Nail diseases in the pediatric population differ from those... (Review)
Review
Congenital nail disorders are an uncommon presenting symptom which can be difficult to diagnose and manage. Nail diseases in the pediatric population differ from those in adults in terms of diagnosis, approach and management. In most cases, they do not require treatment and resolve with growth. Physicians need to be able to recognize them, to reassure the parents. The most frequently encountered pathologies associated with nail disorder are syndactyly, acrosyndactyly, symbrachydactyly, macrodactyly, Wassel I thumb duplication, Kirner's deformity and congenital onychodysplasia of the index finger. Treatment usually consists in surgical correction of the deformity. Nail malformation can also be an aspect of a systemic disease. It may provide a clue for screening, and should not be overlooked. Nail conditions can be the first sign of nail-patella syndrome, ectodermal dysplasia, dyskeratosis congenita, epidermolysis bullosa, pachyonychia congenita or lung disease. Medical treatment is therefore discussed on a case-by-case basis.
Topics: Humans; Nails, Malformed; Nail Diseases; Ectodermal Dysplasia
PubMed: 38879228
DOI: 10.1016/j.hansur.2023.01.011 -
La Tunisie Medicale May 2024Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a... (Comparative Study)
Comparative Study
INTRODUCTION
Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a neovagina and restore sexual life. However, postoperative results in terms of sexual and overall quality of life of patients remain controversial.
AIM
To evaluate the quality of life and sexuality of patients operated on for Rokitansky syndrome.
METHODS
This was a retrospective and comparative study between two groups of patients. The first group consisted of patients who had undergone vaginoplasty as part of SRKMH. The second group was that of the controls. Control in terms of sexual function by the Ar FSFI (Arab FemaleSexualFunction Index) and quality of life by the SF36 (Short Forms Health Survey) were used in both groups.
RESULTS
The average age of patients operated on for SRKMH was 22.53 years. Eighteen of these patients (60%) were sexually active at the time of the study. Patients operated on for SRKMH had a significantly lower Ar FSFI score compared to the control group. The two areas most affected were lubrication and pain. Likewise, patients who underwent vaginoplasty had a significantly lower SF 36 score compared to the control group. The psychological component was the most affected of the different components of quality of life.
CONCLUSION
Sexual function and quality of life after vaginoplasty in the context of Rokitansky syndrome remains unsatisfactory despite the anatomical result.
Topics: Humans; Quality of Life; Female; Retrospective Studies; Congenital Abnormalities; 46, XX Disorders of Sex Development; Mullerian Ducts; Young Adult; Adult; Vagina; Sexuality; Adolescent; Uterus; Sexual Behavior
PubMed: 38801290
DOI: 10.62438/tunismed.v102i5.4738 -
European Review For Medical and... Jan 2024Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the upper limbs, congenital heart malformations, and cardiac...
BACKGROUND
Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the upper limbs, congenital heart malformations, and cardiac conduction diseases. HOS usually requires the implantation of a pacemaker, because of cardiac conduction disturbances.
CASE REPORT
We present the case of a patient with HOS qualified for pacemaker implantation due to overt bradycardia. To prevent the development of heart failure in the future, the His-bundle pacing technique was used. The implantation was successful. In the control, after one year, the man remains in good condition. The pacing was over 90%, and the left ventricular ejection fraction (LVEF) was stable (60%).
CONCLUSIONS
So far, there are no reports on which methods of stimulation are required when it comes to patients with HOS. His-bundle pacing technique is a new type of physiological pacing, which can avoid heart failure.
Topics: Humans; Stroke Volume; Ventricular Function, Left; Heart Septal Defects, Atrial; Cardiac Conduction System Disease; Heart Failure; Abnormalities, Multiple; Heart Defects, Congenital; Lower Extremity Deformities, Congenital; Upper Extremity Deformities, Congenital
PubMed: 38235884
DOI: 10.26355/eurrev_202401_34921 -
Clinica Chimica Acta; International... Jan 2024During embryonic development, the cardiovascular system and the central nervous system exhibit a coordinated developmental process through intricate interactions.... (Review)
Review
During embryonic development, the cardiovascular system and the central nervous system exhibit a coordinated developmental process through intricate interactions. Congenital heart disease (CHD) refers to structural or functional abnormalities that occur during embryonic or prenatal heart development and is the most common congenital disorder. One of the most common complications in CHD patients is neurodevelopmental disorders (NDD). However, the specific mechanisms, connections, and precise ways in which CHD co-occurs with NDD remain unclear. According to relevant research, both genetic and non-genetic factors are significant contributors to the co-occurrence of sporadic CHD and NDD. Genetic variations, such as chromosomal abnormalities and gene mutations, play a role in the susceptibility to both CHD and NDD. Further research should aim to identify common molecular mechanisms that underlie the co-occurrence of CHD and NDD, possibly originating from shared genetic mutations or shared gene regulation. Therefore, this review article summarizes the current advances in the genetics of CHD co-occurring with NDD, elucidating the application of relevant gene detection techniques. This is done with the aim of exploring the genetic regulatory mechanisms of CHD co-occurring with NDD at the gene level and promoting research and treatment of developmental disorders related to the cardiovascular and central nervous systems.
Topics: Humans; Heart Defects, Congenital; Heart; Cardiovascular System; Mutation; Neurodevelopmental Disorders
PubMed: 38030030
DOI: 10.1016/j.cca.2023.117683 -
Medicinal Research Reviews Sep 2023Down syndrome (DS) or trisomy 21 is a genetic condition often accompanied by chronic pain caused by congenital abnormalities and/or conditions, such as osteoarthritis,... (Review)
Review
Down syndrome (DS) or trisomy 21 is a genetic condition often accompanied by chronic pain caused by congenital abnormalities and/or conditions, such as osteoarthritis, recurrent infections, and leukemia. Although DS patients are more susceptible to chronic pain as compared to the general population, the pain experience in these individuals may vary, attributed to the heterogenous structural and functional differences in the central nervous system, which might result in abnormal pain sensory information transduction, transmission, modulation, and perception. We tried to elaborate on some key questions and possible explanations in this review. Further clarification of the mechanisms underlying such abnormal conditions induced by the structural and functional differences is needed to help pain management in DS patients.
Topics: Humans; Down Syndrome; Chronic Pain; Central Nervous System
PubMed: 36924439
DOI: 10.1002/med.21954 -
Nature Reviews. Disease Primers Nov 2023
Topics: Humans; Lung Diseases; Lung; Respiratory System Abnormalities
PubMed: 37919308
DOI: 10.1038/s41572-023-00477-8 -
Current Opinion in Otolaryngology &... Aug 2023Congenital ear deformities are characterized by distorted, but still present, landmarks of the auricle. Interventions include early treatment with ear molding or delayed... (Review)
Review
PURPOSE OF REVIEW
Congenital ear deformities are characterized by distorted, but still present, landmarks of the auricle. Interventions include early treatment with ear molding or delayed surgical treatment. The purpose of this review is to provide an update on the latest information related to ear molding for congenital ear deformities.
RECENT FINDINGS
Various ear molding techniques date back to the 1980s, but with the availability of commercially available molding systems, interest and use has blossomed in recent years. As more longitudinal research results are obtained, ear molding has been proven to be a highly effective treatment, although the best technique and length of treatment remains unclear.
SUMMARY
While it is clear that earlier intervention is ideal, due to lack of public awareness, patients often present later, and it remains controversial what age to offer ear molding interventions to and still expect success. Ear molding interventions are becoming increasingly covered by insurance due to evidence of preventing long-term psychological morbidities and the need for future surgical interventions.
Topics: Humans; Ear, External; Ear Auricle; Treatment Outcome; Hearing Aids; Congenital Abnormalities
PubMed: 37039142
DOI: 10.1097/MOO.0000000000000895 -
Radiologie (Heidelberg, Germany) May 2024Malformations of the central nervous system belong to the most common developmental disorders in humans. The clinical presentation of brain malformations is nonspecific...
CLINICAL ISSUE
Malformations of the central nervous system belong to the most common developmental disorders in humans. The clinical presentation of brain malformations is nonspecific including developmental delay, hypotonia, and/or epilepsy. The great heterogeneity concerning etiology, mechanisms of development and morphology is challenging for diagnosis and classification of brain malformations. Thereby recognizing specific malformations is essential for optimal patient management and prognostic evaluation. The aim of this article is to give an overview of several clinically relevant brain malformations occurring from different disrupted developmental processes in brain formation.
STANDARD RADIOLOGICAL METHODS
Several brain malformations are already diagnosed during routine ultrasound in pregnancy. However pre- and postnatal magnetic resonance imaging remains the gold standard in detecting the partially subtle changes and to classify the malformations.
METHODICAL INNOVATIONS
Advances in pre- and postnatal neuroimaging techniques and increasing investigation of genetic mechanisms underlying brain formation and its abnormalities have led to a better understanding of embryologic development and pathogeneses of brain malformations.
CONCLUSION
Besides patient's history and clinical phenotype, neuroimaging plays a key role in diagnosis. Not always a specific diagnosis can be made, but neuroimaging patterns often enable a focused genetic testing and therefore are revolutionary for etiologic and prognostic assignment. Basic knowledge of brain development facilitates understanding and classifying of structural brain abnormalities.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Brain; Magnetic Resonance Imaging; Nervous System Malformations; Neuroimaging
PubMed: 38639917
DOI: 10.1007/s00117-024-01300-5 -
Foot and Ankle Clinics Dec 2023Cavovarus or high-arched foot is a common foot deformity that occurs due to the disruption of the foot-driven equilibrium between the first metatarsal, fifth metatarsal,... (Review)
Review
Cavovarus or high-arched foot is a common foot deformity that occurs due to the disruption of the foot-driven equilibrium between the first metatarsal, fifth metatarsal, and the heel. This imbalance leads to an increase in the foot's normal plantar concavity. Cavovarus deformity ranges from a mild and flexible malalignment to a fixed, complex, and severe deformation. Subtle cavovarus foot, the mild form of the cavus foot, was first described by Manoli and colleagues.
Topics: Humans; Foot; Foot Deformities; Talipes Cavus; Metatarsal Bones; Athletes
PubMed: 37863531
DOI: 10.1016/j.fcl.2023.05.010