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Vascular Health and Risk Management 2023Fibromuscular dysplasia (FMD) is a rare idiopathic, segmental, noninflammatory and nonatherosclerotic arteriopathy of medium-sized arteries. It is classically considered... (Review)
Review
Fibromuscular dysplasia (FMD) is a rare idiopathic, segmental, noninflammatory and nonatherosclerotic arteriopathy of medium-sized arteries. It is classically considered to be a disease of young and middle adulthood, with females more commonly affected than males. FMD is a systemic disease. Although historically considered to be rare, cerebrovascular FMD (C-FMD) has now been recognized to be as common as the renovascular counterpart. Extracranial carotid and vertebral arteries are the most commonly involved vascular territories in C-FMD with the clinical presentation determined by vessels affected. Common symptoms include headaches and pulsatile tinnitus, with transient ischemic attacks, ischemic stroke and subarachnoid or intracerebral hemorrhage constituting the more severe clinical manifestations. Cervical artery dissection involving carotids more often than vertebral arteries and intracranial aneurysms account for the cerebrovascular pathologies detected in C-FMD. Our understanding regarding C-FMD has been augmented in the recent past on account of dedicated C-FMD data from North American, European and other international FMD cohorts. In this review article, we provide an updated and comprehensive overview on epidemiology, clinical presentation, etiology, diagnosis and management of C-FMD.
Topics: Female; Male; Humans; Adult; Fibromuscular Dysplasia; Arteries; Headache; Ischemic Attack, Transient; Ischemic Stroke
PubMed: 37664168
DOI: 10.2147/VHRM.S388257 -
Pediatric Pulmonology Aug 2023This review outlines some of the major contributions to Neonatal Pulmonology published in 2022 in Pediatric Pulmonology in the areas of lung ultrasound, prevention and... (Review)
Review
This review outlines some of the major contributions to Neonatal Pulmonology published in 2022 in Pediatric Pulmonology in the areas of lung ultrasound, prevention and treatment of bronchopulmonary dysplasia, and pulmonary function outcomes of neonatal lung disease.
Topics: Infant, Newborn; Child; Humans; Pulmonary Medicine; Bronchopulmonary Dysplasia; Lung
PubMed: 37171089
DOI: 10.1002/ppul.26468 -
Annual Review of Genomics and Human... Aug 2023The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than... (Review)
Review
The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than 30 different types of skeletal dysplasia are now known to be caused by pathogenic variants in genes that belong to the TGF-β superfamily and/or regulate TGF-β/BMP bioavailability. This review describes the latest advances in skeletal dysplasia that is due to impaired TGF-β/BMP signaling and results in short stature (acromelic dysplasia and cardiospondylocarpofacial syndrome) or tall stature (Marfan syndrome). We thoroughly describe the clinical features of the patients, the underlying genetic findings, and the pathomolecular mechanisms leading to disease, which have been investigated mainly using patient-derived skin fibroblasts and mouse models. Although no pharmacological treatment is yet available for skeletal dysplasia due to impaired TGF-β/BMP signaling, in recent years advances in the use of drugs targeting TGF-β have been made, and we also discuss these advances.
Topics: Animals; Mice; Osteochondrodysplasias; Osteosclerosis; Biological Availability; Bone Development; Transforming Growth Factor beta
PubMed: 37624666
DOI: 10.1146/annurev-genom-120922-094107 -
Diagnostics (Basel, Switzerland) Sep 2023This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe...
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias. Skeletal dysplasias represent a group of genetic disorders that affect osteogenesis. The prevalence of this condition is 1 in 4000 births. Sadly, 25% of affected infants are stillborn, and around 30% do not survive the neonatal period. There is a wide range of rare skeletal dysplasias, each with its own specific recurrence risk, dysmorphic expression, and implications for neonatal survival and quality of life. When skeletal dysplasia is incidentally discovered during routine ultrasound screening in a pregnancy not known to be at risk of a specific syndrome, a systematic examination of the limbs, head, thorax, and spine is necessary to reach the correct diagnosis. Prenatal diagnosis of skeletal dysplasia is crucial for providing accurate counselling to future parents and facilitating the proper management of affected pregnancies. An accurate diagnosis can be a real challenge due to the wide spectrum of clinical presentations of skeletal dysplasia but advances in imaging technologies and molecular genetics have improved accuracy. Additionally, some of these skeletal dysplasias may present clinical overlap, making it especially difficult to distinguish. After the 11th revision of genetic skeletal disorder nosology, there are 771 entities associated with 552 gene mutations. The most common types of skeletal dysplasia are thanatophoric dysplasia, osteogenesis imperfect, achondroplasia, achondrogenesis, and asphyxiating thoracic dystrophy.
PubMed: 37761271
DOI: 10.3390/diagnostics13182905 -
Biomedical Reports Nov 2023Cervical myelopathy is a well-described medulla spinalis syndrome characterized by sensory disorders, such as pain, numbness, or paresthesia in the limbs, and motor... (Review)
Review
Cervical myelopathy is a well-described medulla spinalis syndrome characterized by sensory disorders, such as pain, numbness, or paresthesia in the limbs, and motor disorders, such as muscle weakness, gait difficulties, spasticity, or hyperreflexia. If left untreated, cervical myelopathy can significantly affect the quality of life of patients, while in severe cases, it can cause disability or even quadriplegia. Cervical myelopathy is the final stage of spinal cord insult and can result from transgene dysplasias of the spinal cord, and acute or chronic injuries. Spondylosis is a common, multifactor cause of cervical myelopathy and affects various elements of the spine. The development of spondylotic changes in the spine is gradual during the patient's life and the symptoms are presented at a late stage, when significant damage has already been inflicted on the spinal cord. Spondylosis is widely considered a condition affecting the middle aged and elderly. Given the fact that the population is gradually becoming older, in the near future, clinicians may have to face an increased number of patients with spondylotic myelopathy.
PubMed: 37881604
DOI: 10.3892/br.2023.1666 -
Early Human Development Nov 2023The incidence of bronchopulmonary dysplasia (BPD) and respiratory management practices for extremely low birth weight infants (ELBWIs) widely vary among institutions and...
BACKGROUND
The incidence of bronchopulmonary dysplasia (BPD) and respiratory management practices for extremely low birth weight infants (ELBWIs) widely vary among institutions and countries.
AIMS
To clarify the variation and characteristics of the current practices of Japanese neonatologists managing patients with BPD.
STUDY DESIGN
Questionnaire-based survey.
PARTICIPANTS
Level II and III perinatal centers certified by the Japan Society of Perinatal and Neonatal Medicine.
OUTCOME MEASURES
Policies of the neonatal intensive care units (NICUs) regarding respiratory care and medications for BPD prevention and treatment.
RESULTS
A total of 76 % of facilities (207/274) responded to our survey. The response rates of level III and II facilities were 91 % (102/112) and 35 % (105/296), respectively. INtubation-SURfactant-Extubation and Less Invasive Surfactant Administration methods were performed in 23 % (47/206) and 1 % (3/206) of facilities, respectively. For the prophylactic purpose, systemic and inhaled steroids were administered "frequently" or "occasionally" in 14 % (28/205) and 42 % (86/204) of NICUs, respectively. For the therapeutic purpose, systemic and inhaled steroids were administered "frequently" or "occasionally" in 84 % (171/204) and 29 % (59/204) of NICUs, respectively. Approximately half of the NICUs (99/202) used volume-targeted ventilation (VTV) "frequently" or "occasionally" in progressing BPD. High-frequency oscillation ventilation (HFOV) was used for progressing BPD "frequently" and "occasionally" in 89 % (180/202) of the facilities.
CONCLUSIONS
Our study provided an overview and characteristics of BPD management in Japan in recent years. Noninvasive approaches with surfactant administration remain not widely used in Japan. HFOV is a widely accepted management for progressing BPD.
Topics: Infant, Newborn; Infant; Pregnancy; Female; Humans; Bronchopulmonary Dysplasia; Japan; Infant, Extremely Low Birth Weight; Pulmonary Surfactants; Surface-Active Agents; Steroids; Surveys and Questionnaires; Respiration, Artificial
PubMed: 37788509
DOI: 10.1016/j.earlhumdev.2023.105867 -
Ceskoslovenska Patologie 2023We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or... (Review)
Review
We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).
Topics: Pregnancy; Female; Humans; Osteochondrodysplasias; Thanatophoric Dysplasia; Campomelic Dysplasia; Receptor, Fibroblast Growth Factor, Type 3; Fetus
PubMed: 37468326
DOI: No ID Found