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Brain & Development Jan 2022Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid...
Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid conditions. Anatomical anomalies of the brainstem are assumed to be major etiologies of MBS. Its phenotypic presentation can be variable. We report a female patient with MBS who presented with neurogenic bladder (NB). She was born via normal vaginal delivery. At birth, she showed bilateral abducens palsy and right facial palsy. We diagnosed MBS by cranial computed tomography scan and magnetic resonance imaging. She had recurrent urinary tract infection. Hydronephrosis was noted on ultrasonography and bilateral vesicoureteral reflux (grade 5) on voiding cystourethrography. Urodynamic investigation showed detrusor overactivity and detrusor-sphincter dyssynergia, which follow the pattern of NB resulting from infrapontine-suprasacral lesions. Patients with MBS have lower brainstem dysfunction, and accordingly we should be aware of NB.
Topics: Child, Preschool; Female; Humans; Male; Mobius Syndrome; Pons; Urinary Bladder, Neurogenic; Urodynamics
PubMed: 34400011
DOI: 10.1016/j.braindev.2021.07.006 -
The Journal of Clinical Investigation Jun 2022Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation...
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) and Myomixer (MYMX). We describe a human pedigree harboring a recessive truncating variant of the MYMX gene that eliminates an evolutionarily conserved extracellular hydrophobic domain of MYMX, thereby impairing fusogenic activity. Homozygosity of this human variant resulted in a spectrum of abnormalities that mimicked the clinical presentation of Carey-Fineman-Ziter syndrome (CFZS), caused by hypomorphic MYMK variants. Myoblasts generated from patient-derived induced pluripotent stem cells displayed defective fusion, and mice bearing the human MYMX variant died perinatally due to muscle abnormalities. In vitro assays showed that the human MYMX variant conferred minimal cell-cell fusogenicity, which could be restored with CRISPR/Cas9-mediated base editing, thus providing therapeutic potential for this disorder. Our findings identify MYMX as a recessive, monogenic human disease gene involved in CFZS, and provide new insights into the contribution of myoblast fusion to neuromuscular diseases.
Topics: Animals; Humans; Membrane Proteins; Mice; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Pierre Robin Syndrome
PubMed: 35642635
DOI: 10.1172/JCI159002 -
Scientific Reports Sep 2021Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic with significant mortality....
Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic with significant mortality. Accurate information on the specific circumstances of death and whether patients died from or with SARS-CoV-2 is scarce. To distinguish COVID-19 from non-COVID-19 deaths, we performed a systematic review of 735 SARS-CoV-2-associated deaths in Hamburg, Germany, from March to December 2020, using conventional autopsy, ultrasound-guided minimally invasive autopsy, postmortem computed tomography and medical records. Statistical analyses including multiple logistic regression were used to compare both cohorts. 84.1% (n = 618) were classified as COVID-19 deaths, 6.4% (n = 47) as non-COVID-19 deaths, 9.5% (n = 70) remained unclear. Median age of COVID-19 deaths was 83.0 years, 54.4% were male. In the autopsy group (n = 283), the majority died of pneumonia and/or diffuse alveolar damage (73.6%; n = 187). Thromboses were found in 39.2% (n = 62/158 cases), pulmonary embolism in 22.1% (n = 56/253 cases). In 2020, annual mortality in Hamburg was about 5.5% higher than in the previous 20 years, of which 3.4% (n = 618) represented COVID-19 deaths. Our study highlights the need for mortality surveillance and postmortem examinations. The vast majority of individuals who died directly from SARS-CoV-2 infection were of advanced age and had multiple comorbidities.
Topics: Adult; Age Factors; Aged; Aged, 80 and over; Alveolar Epithelial Cells; Autopsy; COVID-19; Comorbidity; Female; Germany; Humans; Lung; Male; Middle Aged; Mortality; Pneumonia; Prospective Studies; Pulmonary Embolism; SARS-CoV-2; Thrombosis
PubMed: 34588486
DOI: 10.1038/s41598-021-98499-3 -
Critical Care (London, England) Mar 2022In severe cases, SARS-CoV-2 infection leads to acute respiratory distress syndrome (ARDS), often treated by extracorporeal membrane oxygenation (ECMO). During ECMO...
BACKGROUND
In severe cases, SARS-CoV-2 infection leads to acute respiratory distress syndrome (ARDS), often treated by extracorporeal membrane oxygenation (ECMO). During ECMO therapy, anticoagulation is crucial to prevent device-associated thrombosis and device failure, however, it is associated with bleeding complications. In COVID-19, additional pathologies, such as endotheliitis, may further increase the risk of bleeding complications. To assess the frequency of bleeding events, we analyzed data from the German COVID-19 autopsy registry (DeRegCOVID).
METHODS
The electronic registry uses a web-based electronic case report form. In November 2021, the registry included N = 1129 confirmed COVID-19 autopsy cases, with data on 63 ECMO autopsy cases and 1066 non-ECMO autopsy cases, contributed from 29 German sites.
FINDINGS
The registry data showed that ECMO was used in younger male patients and bleeding events occurred much more frequently in ECMO cases compared to non-ECMO cases (56% and 9%, respectively). Similarly, intracranial bleeding (ICB) was documented in 21% of ECMO cases and 3% of non-ECMO cases and was classified as the immediate or underlying cause of death in 78% of ECMO cases and 37% of non-ECMO cases. In ECMO cases, the three most common immediate causes of death were multi-organ failure, ARDS and ICB, and in non-ECMO cases ARDS, multi-organ failure and pulmonary bacterial ± fungal superinfection, ordered by descending frequency.
INTERPRETATION
Our study suggests the potential value of autopsies and a joint interdisciplinary multicenter (national) approach in addressing fatal complications in COVID-19.
Topics: COVID-19; Extracorporeal Membrane Oxygenation; Humans; Intracranial Hemorrhages; Male; Respiratory Distress Syndrome; Respiratory Insufficiency; SARS-CoV-2
PubMed: 35346314
DOI: 10.1186/s13054-022-03945-x -
International Journal of Environmental... Jul 2020Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children...
INTRODUCTION
Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy.
METHODS
MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality.
RESULTS
Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population.
DISCUSSION
Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy.
Topics: Adolescent; Anxiety; Anxiety Disorders; Child; Cross-Sectional Studies; Emotional Adjustment; Facial Paralysis; Female; Humans; Male; Mobius Syndrome
PubMed: 32751746
DOI: 10.3390/ijerph17155528 -
Cirugia Pediatrica : Organo Oficial de... Oct 2021Splenogonadal fusion is a rare congenital anomaly of unknown etiology caused by an abnormal fusion of the splenic tissue and the gonadal tissue.
INTRODUCTION
Splenogonadal fusion is a rare congenital anomaly of unknown etiology caused by an abnormal fusion of the splenic tissue and the gonadal tissue.
CASE REPORT
2-year-old patient with paralysis of the 6th, 7th, and 9th cranial nerves, tent-shaped mouth, cleft palate, right pectoralis major hypoplasia, disruptive defect of the right upper limb, and a mass located at the left inguinal region. At inguinal hernia repair surgery, a processus vaginalis with non-reducible content was observed. When opening the hernia sac, a descending segment of splenic tissue merging with the upper pole of the left testis was found. The patient was diagnosed with splenogonadal fusion. The splenic tissue merging with the testis upper pole was resected, and the remaining splenic tissue was reduced towards the abdominal cavity.
DISCUSSION
Splenogonadal fusion is difficult to diagnose. Being familiar with it allows unnecessary orchiectomies to be prevented.
Topics: Child, Preschool; Humans; Male; Scrotum; Spleen; Testis; Poland Syndrome; Mobius Syndrome
PubMed: 34606704
DOI: No ID Found -
ELife May 2020What mechanisms underlie facial expression recognition? A popular hypothesis holds that efficient facial expression recognition cannot be achieved by visual analysis...
What mechanisms underlie facial expression recognition? A popular hypothesis holds that efficient facial expression recognition cannot be achieved by visual analysis alone but additionally requires a mechanism of motor simulation - an unconscious, covert imitation of the observed facial postures and movements. Here, we first discuss why this hypothesis does not necessarily follow from extant empirical evidence. Next, we report experimental evidence against the central premise of this view: we demonstrate that individuals can achieve normotypical efficient facial expression recognition despite a congenital absence of relevant facial motor representations and, therefore, unaided by motor simulation. This underscores the need to reconsider the role of motor simulation in facial expression recognition.
Topics: Adolescent; Adult; Case-Control Studies; Emotions; Facial Expression; Facial Recognition; Female; Humans; Male; Mobius Syndrome; Motor Cortex; Motor Skills; Photic Stimulation; Recognition, Psychology; Speech; Visual Perception; Voice Quality; Young Adult
PubMed: 32364498
DOI: 10.7554/eLife.54687 -
International Journal of Bipolar... May 2024BIPCOM aims to (1) identify medical comorbidities in people with bipolar disorder (BD); (2) examine risk factors and clinical profiles of Medical Comorbidities (MC) in...
BACKGROUND
BIPCOM aims to (1) identify medical comorbidities in people with bipolar disorder (BD); (2) examine risk factors and clinical profiles of Medical Comorbidities (MC) in this clinical group, with a special focus on Metabolic Syndrome (MetS); (3) develop a Clinical Support Tool (CST) for the personalized management of BD and medical comorbidities.
METHODS
The BIPCOM project aims to investigate MC, specifically MetS, in individuals with BD using various approaches. Initially, prevalence rates, characteristics, genetic and non-genetic risk factors, and the natural progression of MetS among individuals with BD will be assessed by analysing Nordic registers, biobanks, and existing patient datasets from 11 European recruiting centres across 5 countries. Subsequently, a clinical study involving 400 participants from these sites will be conducted to examine the clinical profiles and incidence of specific MetS risk factors over 1 year. Baseline assessments, 1-year follow-ups, biomarker analyses, and physical activity measurements with wearable biosensors, and focus groups will be performed. Using this comprehensive data, a CST will be developed to enhance the prevention, early detection, and personalized treatment of MC in BD, by incorporating clinical, biological, sex and genetic information. This protocol will highlight the study's methodology.
DISCUSSION
BIPCOM's data collection will pave the way for tailored treatment and prevention approaches for individuals with BD. This approach has the potential to generate significant healthcare savings by preventing complications, hospitalizations, and emergency visits related to comorbidities and cardiovascular risks in BD. BIPCOM's data collection will enhance BD patient care through personalized strategies, resulting in improved quality of life and reduced costly interventions. The findings of the study will contribute to a better understanding of the relationship between medical comorbidities and BD, enabling accurate prediction and effective management of MetS and cardiovascular diseases.
TRIAL REGISTRATION
ISRCTN68010602 at https://www.isrctn.com/ISRCTN68010602 . Registration date: 18/04/2023.
PubMed: 38703295
DOI: 10.1186/s40345-024-00337-8 -
Neural Plasticity 2021To perform a preliminary test of a new rehabilitation treatment (FIT-SAT), based on mirror mechanisms, for gracile muscles after smile surgery.
OBJECTIVE
To perform a preliminary test of a new rehabilitation treatment (FIT-SAT), based on mirror mechanisms, for gracile muscles after smile surgery.
METHOD
A pre- and postsurgery longitudinal design was adopted to study the efficacy of FIT-SAT. Four patients with bilateral facial nerve paralysis (Moebius syndrome) were included. They underwent two surgeries with free muscle transfers, one year apart from each other. The side of the face first operated on was rehabilitated with the traditional treatment, while the second side was rehabilitated with FIT-SAT. The FIT-SAT treatment includes video clips of an actor performing a unilateral or a bilateral smile to be imitated (FIT condition). In addition to this, while smiling, the participants close their hand in order to exploit the overlapped cortical motor representation of the hand and the mouth, which may facilitate the synergistic activity of the two effectors during the early phases of recruitment of the transplanted muscles (SAT). The treatment was also aimed at avoiding undesired movements such as teeth grinding. . Results support FIT-SAT as a viable alternative for smile rehabilitation after free muscle transfer. We propose that the treatment potentiates the effect of smile observation by activating the same neural structures responsible for the execution of the smile and therefore by facilitating its production. Closing of the hand induces cortical recruitment of hand motor neurons, recruiting the transplanted muscles, and reducing the risk of associating other unwanted movements such as teeth clenching to the smile movements.
Topics: Adult; Child; Facial Paralysis; Female; Hand; Humans; Longitudinal Studies; Male; Mobius Syndrome; Mouth; Neurological Rehabilitation; Photic Stimulation; Postoperative Care; Psychomotor Performance; Smiling
PubMed: 33833792
DOI: 10.1155/2021/8890541 -
Journal of Neurodevelopmental Disorders Jul 2019Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of...
BACKGROUND
Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of that affective state in the observer, along with related autonomic and somatic responses. What happens, therefore, when someone cannot mimic others' facial expressions?
METHODS
We investigated whether psychophysiological emotional responses to others' facial expressions were impaired in 13 children (9 years) with Moebius syndrome (MBS), an extremely rare neurological disorder (1/250,000 live births) characterized by congenital facial paralysis. We inspected autonomic responses and vagal regulation through facial cutaneous thermal variations and by the computation of respiratory sinus arrhythmia (RSA). These parameters provide measures of emotional arousal and show the autonomic adaptation to others' social cues. Physiological responses in children with MBS were recorded during dynamic facial expression observation and were compared to those of a control group (16 non-affected children, 9 years).
RESULTS
There were significant group effects on thermal patterns and RSA, with lower values in children with MBS. We also observed a mild deficit in emotion recognition in these patients.
CONCLUSION
Results support "embodied" theory, whereby the congenital inability to produce facial expressions induces alterations in the processing of facial expression of emotions. Such alterations may constitute a risk for emotion dysregulation.
Topics: Autonomic Nervous System; Body Temperature; Child; Cognitive Dysfunction; Emotions; Facial Expression; Facial Paralysis; Facial Recognition; Female; Humans; Male; Mobius Syndrome; Respiratory Sinus Arrhythmia; Social Perception
PubMed: 31291910
DOI: 10.1186/s11689-019-9272-2