Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving upper and lower extremities in association with bulbar muscle weakness in the context of febrile illness, a phenotype reminiscent of recurrent periodic paralysis.

Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.

Purpose: To explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.

Methods: Retrospective analysis of clinical data and muscle pathology of two ATS families, along with genetic testing for probands and some family members.

Results: In Family 1, spanning four generations, four individuals were affected, while Family 2 had two affected individuals across four generations.

A novel case of Vibrio bacteremia in an immune-competent patient.

Vibrio Cholera, a gram negative bacterium, is notoriously known to cause diarrheal epidemics. The serotypes O1 and O139 are mainly responsible for the diarrheal outbreaks due to the enterotoxin they produce. This enterotoxin however seems to be protective against bacteremia and hence bacteremia is rarely encountered.

Life-Threatening Conditions and Preoperative Complications Associated with Cardiac Neoplasm Do Not Affect Surgical Outcomes or Mortality.

Cardiac neoplasms may cause life-threatening symptoms associated with cerebral infarction, ventricular arrhythmias, and heart failure. Emergency surgery or preoperative treatment may be required for these patients. However, no study has reported the surgical outcomes in cases involving cardiac neoplasms with life-threatening complications.

Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.

Background: Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of HypoPP is more strongly associated with a diagnosis of thyrotoxic periodic paralysis (TPP), with most cases occurring in Asian males with pathogenic KCNJ2 or KCNJ18 variants and without a family history of the condition. This case is novel due to the combination of familial HypoPP and hyperthyroidism induced by Graves' disease, a rare occurrence especially in non-Asian populations.

Lung ultrasound in neonates under cardiac surgery: feasible and predictive.

Purpose: To determine whether pre- and postoperative follow-up based on lung ultrasound is associated with the respiratory and clinical evolution of patients undergoing cardiac surgery in the neonatal period.

Methods: Prospective observational unicentric study from December 2020 to October 2023 in a neonatal intensive care unit, a referral center for congenital heart diseases (CHD). Neonates with CHD exposed to heart surgery or percutaneous catheterization in their first 28 days of life were included.

Rabies in free-ranging capybaras (Hydrochoerus hydrochaeris) on Anchieta Island, Ubatuba, Brazil.

Between December 2019 and January 2020, three cases of rabies were reported in free-ranging capybaras on Anchieta Island, Ubatuba-SP, Brazil. This 8.28 km² island is located 540 m offshore from the mainland.

Thyrotoxic periodic paralysis complicated by carbimazole-associated myositis.

A male of East Asian background in his 30s presented to the emergency department with acute onset global muscle weakness, elevated creatine kinase, profound hypokalaemia and hyperthyroidism. A diagnosis of thyrotoxic periodic paralysis was made and the myopathy resolved promptly with potassium replacement. However, 3 months after being commenced on carbimazole for hyperthyroidism, the patient developed myalgias without weakness associated with an elevated creatine kinase.

Representative honey bee viruses do not replicate in the small hive beetle, Aethina tumida Murray.

The small hive beetle (SHB), Aethina tumida Murray, is an invasive pest of the honey bee and causes significant damage through the consumption of colony resources and brood. Two assumptions related to honey bee virus transmission have been made about SHB: first, that SHB vectors honey bee viruses and second, that these viruses replicate in SHB based on the detection of both positive and negative strand viral genomic RNA within SHB. To clarify the role of SHB in virus transmission, we sought to address whether selected honey bee viruses replicate in SHB.

Frontotemporal lobar degeneration changes neuronal beta-frequency dynamics during the mismatch negativity response.

The consequences of frontotemporal lobar degeneration include changes in prefrontal cortical neurophysiology, with abnormalities of neural dynamics reported in the beta frequency range (14-30 Hz) that correlate with functional severity. We examined beta dynamics in two clinical syndromes associated with frontotemporal lobar degeneration: the behavioral variant of frontotemporal dementia (bvFTD) and progressive supranuclear palsy (PSP). Whilst these two syndromes are partially convergent in cognitive effects, they differ in disease mechanisms such as molecular pathologies and prefrontal atrophy.

Extended-period AOSLO imaging in the living human retina without pupil dilation: a feasibility study.

imaging using an adaptive optics scanning laser ophthalmoscope (AOSLO) is challenging, especially over extended periods. Pharmacological agents, administered as eye drops, are commonly used to dilate the pupil and paralyse accommodation, to improve image quality. However, they are contraindicated in some scenarios.

Predictors and inpatient outcomes of aspiration pneumonia in patients with percutaneous endoscopic gastrostomy tube: An analysis of national inpatient sample.

Background: Percutaneous endoscopic gastrostomy (PEG) tubes are commonly inserted to provide a route for enteral feeding in patients who are unlikely to have adequate oral intake for prolonged periods of time. This study aims to determine the incidence of aspiration pneumonia among PEG tube patients.

Methods: We conducted a retrospective analysis of NIS database records (October 2015 to December 2020) for patients with PEG.

Cross-disorder and disease-specific pathways in dementia revealed by single-cell genomics.

The development of successful therapeutics for dementias requires an understanding of their shared and distinct molecular features in the human brain. We performed single-nuclear RNA-seq and ATAC-seq in Alzheimer's disease (AD), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), analyzing 41 participants and ∼1 million cells (RNA + ATAC) from three brain regions varying in vulnerability and pathological burden. We identify 32 shared, disease-associated cell types and 14 that are disease specific.

Additional injection laryngoplasty as a salvage treatment for unilateral vocal fold paralysis.

Objectives: Injection laryngoplasty (IL) has been widely used as an initial treatment option for unilateral vocal fold paralysis (UVFP). An additional (second) IL is considered a salvage treatment for unsatisfactory outcomes of initial IL resulting from inadequate injection or early resorption of the injection material. This study aims to evaluate the efficacy of additional IL, distinguishing between "salvage" (within 4 months) and "repeated" injections (beyond 4 months), and to analyze prognostic factors for successful outcomes.

A Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings.

Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad, including periodic paralysis, ventricular arrhythmias with associated prolonged QT interval and U waves, and dysmorphic facial and skeletal features. Pathogenic variants of the KCNJ2 gene are linked to ATS.

Methods: We present two siblings with the same pathogenic mutation and facial characteristic of hypotelorism, yet with intrafamilial and sex-specific variability.

Unraveling the Clinical Complexity of Thyrotoxic Periodic Paralysis: A Case Report.

Thyrotoxic periodic paralysis (TPP) is a clinical condition characterized by hypokalemia, muscle paralysis, and hyperthyroidism. TPP can be challenging to diagnose due to its low disease prevalence and the similarity of paralysis to other common conditions. Through this case report, we highlight the importance of considering hyperthyroidism as a cause of recurrent attacks of muscle paralysis, particularly in the setting of other signs of hyperthyroidism.

Two-year epidemiology of post-COVID-19 conditions in Bangladesh: a cohort study of post-COVID-19 from 12,925 SARS-CoV-2 cases between July and December 2021-2023 in Bangladesh.

Background: Post-COVID-19 conditions (PCCs), also known as long COVID, is persistently debilitating disorders that need investigation on their incidence, morbidity, and case-fatality rate.

Purpose: The objectives of this cohort study were to determine the incidence, characteristics, case-fatality, morbidity, and recovery of post-COVID-19 symptoms throughout a two-year period of observation.

Methods: This was a population-based cohort study of post-COVID-19 cases among 12,925 SARS-CoV-2 positive individuals in eight administrative districts of Bangladesh between July and December 2021-2023.

Unilateral Compressive Peroneal Neuropathy in Intensive Care Settings During the COVID-19 Pandemic: A Series of Three Cases.

Peroneal nerve entrapment, typically associated with behaviors like cross-legged sitting or squatting, can also occur from extended periods of lying down where the lower limbs usually assume a position of hip external rotation and knee flexion. In such positions, the fibular head's prominence can exert sustained pressure on the peroneal nerve. We report three cases of unilateral peroneal neuropathy in intensive care unit (ICU) patients during the coronavirus disease (COVID-19) pandemic, highlighting the possible role of prolonged supine or lateral decubitus positions in the development of this condition.

Factors of postoperative recurrent laryngeal nerve paralysis and recovery of vocal cord movement in thyroid surgery.

Objective: Postoperative recurrent laryngeal nerve paralysis is one of the complications of thyroid surgery, and the prevention and management of paralysis is an important issue for surgeons. In this study, in order to gain further understanding of recurrent laryngeal nerve paralysis after thyroid surgery, we analyzed and examined the usefulness of nerve stimulators for recurrent laryngeal nerve paralysis and the factors that may cause recurrent laryngeal nerve paralysis. Furthermore, in cases where transient recurrent laryngeal nerve paralysis occurred, we analyzed and examined the timing of improvement in vocal cord movement for each intraoperative finding and intraoperative operation that caused the paralysis.

Quantitative Comparisons of Progressive Supranuclear Palsy Rating Scale Versions Using Item Response Theory.

Background: Progressive supranuclear palsy (PSP) is a neurodegenerative, late-onset disease that is challenging in terms of assessment. The Progressive Supranuclear Palsy Rating Scale (PSPRS), a 28-item clinician-reported scale, is the most established clinical outcome assessment method. Recently, the U.