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Orphanet Journal of Rare Diseases May 2024Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical...
BACKGROUND
Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly.
METHODS
Two hundred seven scans of patients with trigonocephaly (90), metopic rigdes (27), and controls (90) were collected. Geometric morphometrics were used to quantify skull and orbital morphology as well as the interfrontal angle and the cephalic index. An innovative method was developed to automatically compute the frontal curvature along the metopic suture. Different machine-learning algorithms were tested to assess the predictive power of morphological data in terms of classification.
RESULTS
We showed that control patients, trigonocephaly and metopic rigdes have distinctive skull and orbital shapes. The 3D frontal curvature enabled a clear discrimination between groups (sensitivity and specificity > 92%). Furthermore, we reached an accuracy of 100% in group discrimination when combining 6 univariate measures.
CONCLUSION
Two diagnostic tools were proposed and demonstrated to be successful in assisting differential diagnosis for patients with trigonocephaly or metopic ridges. Further clinical assessments are required to validate the practical clinical relevance of these tools.
Topics: Humans; Craniosynostoses; Female; Male; Infant; Imaging, Three-Dimensional; Skull
PubMed: 38762603
DOI: 10.1186/s13023-024-03197-8 -
Annals of Translational Medicine Apr 2024The remit of this review is confined to the experimental scientific works and surgeries based on the Integral Theory paradigm. The video abstract summarizes the... (Review)
Review
The remit of this review is confined to the experimental scientific works and surgeries based on the Integral Theory paradigm. The video abstract summarizes the anorectal function, how ligaments cause dysfunction and cure of fecal incontinence and obstructed defecation by ligament repair. Anorectal function is reflex and binary, with cortical and peripheral components. The same three oppositely acting reflex muscle forces which open and close the bladder, contract against the pubourethral (PUL) and uterosacral (USL) ligaments: (I) to close the anorectum for continence when the puborectalis muscle (PRM) contracts forwards; (II) to open the anorectum prior to evacuation when the PRM relaxes; (III) to stretch the rectum in opposite directions to support the anorectal stretch receptors "N" to prevent premature activation of the defecation reflex, (fecal urgency). Weak or loose PULs or USLs may cause dysfunction of closure, of evacuation, and inability to control the defecation reflex (fecal urgency). Repair of the PUL and USL can improve or cure these dysfunctions. The perineal body (PB) acts as an anatomical support for the distal vagina, anorectum and external anal sphincter (EAS). It serves as an anchoring point for the forward action of the pubococcygeus muscle (PCM), which tensions the anterior rectal wall during closure and defecation. Bladder and bowel dysfunction have a similar pathogenesis, ligament laxity, mainly pubourethral and uterosacral, with added PB damage for anorectal dysfunction. PB damage can cause obstructive defecation and descending perineal syndrome (DPS). Repair of damaged PUL and USL can restore the closure and evacuation functions of both bladder an anorectum. DPS can be cured by repair of the PB's suspensory ligaments, deep transversus perinei.
PubMed: 38721466
DOI: 10.21037/atm-23-1883 -
Clinical Medicine (London, England) May 2024Spinal epidural abscess is a rare but serious condition with poor outcomes. It's classic triad of new back pain, neurological deficit and fever is only present in 15% of...
Spinal epidural abscess is a rare but serious condition with poor outcomes. It's classic triad of new back pain, neurological deficit and fever is only present in 15% of cases at presentation and is initially misdiagnosed in 75-89%. Delaying treatment is associated with worse outcomes. Delirium is itself a risk factor for mortality but the disturbance in cognition and memory can also complicate clinical assessment. We present a case of delirium caused by, and obscuring, a spinal epidural abscess. This case highlights the difficulties in diagnosing spinal epidural abscesses, the need for a high index of suspicion for the condition and timely action to minimise morbidity. In addition, it demonstrates the value of treating unexplained delirium as an emergency and the danger of diagnostic premature closure. Finally, the importance of persistent clinical examination of the confused and non-cooperative patient.
Topics: Humans; Epidural Abscess; Male; Delirium; Diagnosis, Differential; Adult; Magnetic Resonance Imaging
PubMed: 38705398
DOI: 10.1016/j.clinme.2024.100214 -
Cureus Mar 2024While atrial septal defect (ASD) may contribute to right ventricular decompression in patients with severe pulmonary hypertension (PH), the pulmonary vasculature might...
Successful Atrial Septal Defect Closure Subsequent to Medical Pulmonary Preconditioning in an Infant With Severe Pulmonary Hypertension Associated With Bronchopulmonary Dysplasia.
While atrial septal defect (ASD) may contribute to right ventricular decompression in patients with severe pulmonary hypertension (PH), the pulmonary vasculature might be compromised by increased pulmonary blood flow, even though pulmonary vasodilators successfully reduce resistance. ASD closure is a treatment option that may ameliorate PH symptoms associated with bronchopulmonary dysplasia (BPD) in infants. However, the feasibility of ASD closure is obscure in patients with BPD-PH causing right-to-left shunting. Here, we present an eight-month-old girl with ASD complicated by BPD-PH, in which the pulmonary pressure exceeded the systemic pressure; the ASD was successfully closed after pulmonary preconditioning with dexamethasone and high-dose diuretics. Our patient was delivered as the third baby in triplets at a gestational age of 25 weeks, with a birth weight of 344 g. She was diagnosed with BPD at three months of age (37 weeks of postmenstrual age) with a body weight of 1.4 kg. Mild pulmonary hypertension was identified at the age of five months, and oral sildenafil was initiated. While her atrial septal defect was small at the time of PH diagnosis, it became hemodynamically significant when she grew up to 3.4 kg of body weight, at seven months after birth. Her estimated right ventricular pressure was apparently more than the systemic pressure, and oxygen saturation fluctuated between 82% and 97% under oxygen supplementation due to bidirectional interatrial shunt with predominant right-to-left shunting. Pulmonary preconditioning lowered the estimated right ventricular pressure to almost equal the systemic pressure and elevated arterial oxygen saturation while also suppressing right-to-left shunting. Cardiac catheterization after preconditioning revealed a ratio of pulmonary blood pressure to systemic blood pressure ratio (Pp/Ps) of 0.9, pulmonary resistance of 7.3 WU-m, and a pulmonary to systemic blood flow ratio (Qp/Qs) of 1.3 (approximately 1.0 in the normal circulation without significant shunt), with the cardiac index of 2.8 L/min/m. The acute pulmonary vasoreactivity test against the combination of 20 ppm nitric oxide and 100% oxygen was negative, although the patient had consistently high pulmonary flow with makeshift improvements after preconditioning. Despite the high pulmonary resistance even after preconditioning, aggressive ASD closure was performed so that pulmonary flow could be consistently suppressed regardless of the pulmonary condition. Her Pp/Ps under 100% oxygen with 20 ppm nitric oxide was 0.7 immediately after closure. After two years of follow-up, her estimated right ventricular pressure was less than half of the systemic pressure with the use of three pulmonary vasodilators, including sildenafil, macitentan, and beraprost. A strategy to temporarily improve PH and respiratory status aimed at ASD closure could be a treatment option for the effective use of multiple pulmonary vasodilators, by which intensive treatment of BPD can be achieved.
PubMed: 38690499
DOI: 10.7759/cureus.57290 -
Journal of Applied Physiology... Jun 2024Excessive dynamic airway collapse (EDAC) is a recognized cause of exertional dyspnea arising due to invagination of the trachea and/or main bronchi. EDAC is typically...
Excessive dynamic airway collapse (EDAC) is a recognized cause of exertional dyspnea arising due to invagination of the trachea and/or main bronchi. EDAC is typically assessed by evaluating large airway movement with forced expiratory maneuvers. This differs from the respiratory response to exercise hyperpnea. We aimed to evaluate large airway movement during physical activity, with continuous bronchoscopy during exercise (CBE), in healthy subjects and compare findings with resting bronchoscopic maneuvers and imaging techniques. Twenty-eight individuals were recruited to complete two visits including treadmill-based CBE, to voluntary exhaustion, and cine magnetic resonance imaging (MRI) with forced expiratory maneuvers at rest. Twenty-five subjects [aged 29 (26-33) yr, 52% female] completed the study ( = 2 withdrew before bronchoscopy, and one was unable to tolerate insertion of bronchoscope). The majority (76%) achieved a peak heart rate of >90% predicted during CBE. The procedure was prematurely terminated in five subjects ( = 3; elevated blood pressure and = 2; minor oxygen desaturation). The CBE assessment enabled adequate tracheal visualization in all cases. Excessive dynamic airway collapse (tracheal collapse ≥50%) was identified in 16 subjects (64%) on MRI, and in six (24%) individuals during resting bronchoscopy, but in no cases with CBE. No serious adverse events were reported, but minor adverse events were evident. The CBE procedure permits visualization of large airway movement during physical activity. In healthy subjects, there was no evidence of EDAC during strenuous exercise, despite evidence during forced maneuvers on imaging, thus challenging conventional approaches to diagnosis. This study demonstrates that large airway movement can be visualized with bronchoscopy undertaken during vigorous exercise. This approach does not require sedation and permits characterization of the behavior of the large airways and the tendency toward collapse during upright, ambulatory exercise. In healthy individuals, the response pattern of the large airways during exercise appears to differ markedly from the pattern of airway closure witnessed during forced expiratory maneuvers, assessed via imaging.
Topics: Humans; Bronchoscopy; Female; Male; Adult; Exercise; Feasibility Studies; Healthy Volunteers; Trachea; Exercise Test; Bronchi
PubMed: 38660727
DOI: 10.1152/japplphysiol.00746.2023 -
Research Square Apr 2024Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth....
INTRODUCTION
Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC.
METHODS
We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death.
RESULTS
Eight patients were identified (50% male) with MMC who were born ≤ 32 weeks gestational age. Mean gestational age of the population was 27.3 weeks (SD 3.5). Median time to MMC closure was 1.5 days (IQR = 1 -80.8). Five patients were taken for surgery within the recommended 48 hours of birth; 2 patients underwent significantly delayed closure (107 and 139 days); and one patient's defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3 years after birth, ranging from 1 day to 16 years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria), and 2 patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7 years. During this time epoch, 3 patients died: Two before 2 years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24 hours of MMC closure.
CONCLUSIONS
In our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term.
PubMed: 38645257
DOI: 10.21203/rs.3.rs-4158288/v1 -
Archives of Gynecology and Obstetrics Jul 2024Spontaneous previable rupture of membranes complicates approximately 0.4-0.7% of pregnancies and is associated with severe maternal and neonatal morbidity and mortality.... (Review)
Review
Spontaneous previable rupture of membranes complicates approximately 0.4-0.7% of pregnancies and is associated with severe maternal and neonatal morbidity and mortality. Intra-amniotic inflammation is present in up to 94.4% of cases, most often caused by a bacterial infection. In comparison, the effectiveness of antibiotic therapy in its eradication reaches less than 17%. Inflammatory activity in the amniotic cavity disrupts the physiological development of the fetus with an increase in maternal, fetal, and neonatal inflammatory morbidity through the development of fetal inflammatory response syndrome, maternal chorioamnionitis, and neonatal sepsis. Amniopatch is an invasive therapeutic technique based on intra-amniotic administration of maternal hemoderivates in the form of thromboconcentrate and plasma cryoprecipitate to provide the temporary closure of the fetal membranes defect and secondary restitution of normohydramnios with correction of pressure-volume ratios. The supposed basis of this physical-mechanical action is the aggregation of coagulant components of amniopatch in the area of the defect with the formation of a valve cap. The background for the formulation of the hypothesis on the potential anti-infectious and anti-inflammatory action of non-coagulant components of amniopatch involved: i) clinical-academic and publishing outputs of the authors based on their many years' experience with amniopatch application in the treatment of spontaneous previable rupture of membranes (2008-2019), ii) the documented absence of clinically manifested chorioamnionitis in patients treated this way with a simultaneously reduced incidence of neonatal respiratory distress syndrome compared to expectant management (tocolysis, corticotherapy, antibiotic therapy). The non-coagulant components of plasma cryoprecipitate include mainly naturally occurring isohemagglutinins, albumin, and soluble plasma fibrinogen. Although these components of the amniopatch have not been attributed a significant therapeutic role, the authors assume that due to their opsonizing and aggregative properties, they can significantly participate in optimizing the intrauterine environment through the reduction in bacterial and cytokine charge in the amniotic fluid. The authors think these facts constitute a vital stimulus to future research-academic activity and, at the same time, an idea for reconsidering the therapeutic role of amniopatch as a tool for improving perinatal results of spontaneous previable ruptures of membranes.
Topics: Humans; Pregnancy; Female; Fetal Membranes, Premature Rupture; Fibrinogen; Chorioamnionitis; Anti-Inflammatory Agents; Infant, Newborn; Anti-Infective Agents; Factor VIII
PubMed: 38642127
DOI: 10.1007/s00404-024-07399-0 -
The American Behavioral Scientist Jul 2023This article draws on the deliberative play framework to examine empirical examples of storytelling in an online deliberative forum: The Oregon Citizen Assembly (ORCA)...
This article draws on the deliberative play framework to examine empirical examples of storytelling in an online deliberative forum: The Oregon Citizen Assembly (ORCA) Pilot on COVID-19 Recovery. ORCA engaged 36 citizens in deliberation about state policy through an online deliberative process spanning seven weeks. Drawing on literature on small stories in deliberation, we trace stories related to a policy proposal about paying parents to educate children at home. Our analysis demonstrates that storytelling activities accomplish aspects of deliberative play through introducing uncertainty, resisting premature closure, and promoting an "as if" frame that allows groups to explore the scope and implications of proposals. Forum design influences interaction and our analysis suggests that technology use and timing are key design features that can facilitate or inhibit deliberative play.
PubMed: 38603357
DOI: 10.1177/00027642221093591 -
Clinical and Experimental Dental... Apr 2024The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog...
OBJECTIVES
The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog (Shh), affects the growth of the adult craniofacial region. This study aims to provide valuable information to orthodontists when making decisions regarding individuals carrying SHH mutation.
MATERIALS AND METHODS
The skulls of embryonic, juvenile and adult mice of two genotypes (Shh heterozygous and wild type) were examined and measured using landmark-based linear dimensions. Additionally, we analysed the clinical characteristics of a group of patients and their relatives with SHH gene mutations.
RESULTS
In the viable Shh mouse model, bred on a C57BL/6J background, we noted the presence of a persistent foramen at the midline of the basisphenoid bone. This particular anomaly was attributed to the existence of an ectopic pituitary gland. We discovered that this anomaly led to premature closure of the intrasphenoidal synchondrosis and contributed to craniofacial deformities in adult mice, including a longitudinally shortened skull base. This developmental anomaly is reminiscent of that commonly observed in human holoprosencephaly, a disorder resulting from a deficiency in SHH activity. However, sphenoid morphogenesis is not currently monitored in individuals carrying SHH mutations.
CONCLUSION
Haploinsufficiency of Shh leads to isolated craniofacial skeletal hypoplasia in adult mouse. This finding highlights the importance of radiographic monitoring of the skull base in all individuals with SHH gene mutations.
Topics: Adult; Animals; Humans; Mice; Hedgehog Proteins; Holoprosencephaly; Mice, Inbred C57BL; Mutation; Sphenoid Bone
PubMed: 38558491
DOI: 10.1002/cre2.861 -
ACS Omega Mar 2024The current research on fracture conductivity ignores the placement of the proppant in fractures and relies on single-fracture conductivity testing and calculation,...
The current research on fracture conductivity ignores the placement of the proppant in fractures and relies on single-fracture conductivity testing and calculation, which cannot represent the overall conductivity of complex fracture systems. This research proposes a calculation method for the long-term conductivity of complex fractures based on proppant placement. This method considers fracture morphology, proppant placement, proppant embedment, and deformation under high closing pressure. The research results show that fracture conductivity decreases with increasing time, which can be divided into three stages: the embedding stage, the creep stage, and the stabilization stage. The long-term conductivity of the main fracture is higher than that of the branching fracture. With increasing closing pressure, the conductivities of both the main fracture and the branching fracture decrease. This is because increasing closure stress accelerates proppant embedment and creep, compressing the fluid flow space and further reducing fracture conductivity. Fracture conductivity is related to the placement of the proppant and sand concentration. Increasing the sand ratio can significantly increase the placement of the proppant in the main fracture and branching fractures, thereby improving fracture conductivity. Increasing the fracturing fluid viscosity can increase its proppant migration capacity. The proppant does not easily settle prematurely in high-viscosity fracturing fluid and can enter more into branching fractures, thereby improving their conductivity.
PubMed: 38524481
DOI: 10.1021/acsomega.3c08594