STAT1 gain-of-function (GOF) mutations are associated with a rare autosomal dominant immunodeficiency disorder with main clinical manifestations including chronic mucocutaneous candidiasis (CMC) and bronchiectasis. In addition, these patients show higher incidences of cerebral and extracerebral aneurysm, malignancies and various autoimmune conditions compared to the general population. Although previous publications have reported clinical findings in patients with STAT1 GOF mutation, they did not include histopathologic features. Herein, we describe the first case with detailed histologic findings in the lung of a 5-year-old patient with a de novo STAT1 GOF mutation, who presented with CMC and bronchiectasis. The biopsy showed severe bronchiolectasis with extensive airway dilatation and occasional disruptions. Peribronchiolar inflammation was not always present and evident mainly in areas of airway disruption; inflammation may have not been a main driver of the airway damage in this case. The airway dilatation often showed an interesting herniating pattern, possibly implying a connective tissue etiology. This case also demonstrates the diagnostic utility of whole exome sequencing as STAT1 GOF mutations are not detected by routine workup. The definitive diagnosis will lead to more specific treatments and increased surveillance for serious conditions, such as cerebral aneurysms and malignancies.
time, finances, and unique circumstances (eg, travel challenges for technology-dependent children or behavioral challenges for neurodiverse children outside their home environments). 2 As such, telehealth reduces the burdens associated with in-person visits. 3 Also, telehealth can increase access to subspecialty care for residents of rural areas, 4,5 to facilitate improved care coordination by clinicians in different locations, 6 and improve self-management and clinical
Background
Two modes of ventilation commonly used in children requiring chronic home mechanical ventilation (HMV) via tracheostomy are Assist Control (AC) and Synchronized Intermittent Mandatory Ventilation with Pressure Support (SIMV + PS). There has been no study comparing these two modes of ventilation in children requiring chronic HMV.
Methods
We studied children requiring HMV capable of completing speech testing. Study participants were blinded to changes and studied on both modes, evaluating their oxygen saturation, end‐tidal carbon dioxide (PETCO2), heart rate, respiratory rate, and respiratory pattern. Subjects completed speech testing and answered subjective questions about their level of comfort, ease of breathing, and ease of speech.
Results
Fifteen children aged 12.3 ± 4.8 years were tested. There was no difference in mean oxygen saturation, minimum oxygen saturation, mean PETCO2, maximum PETCO2, mean heart rate, and mean respiratory rate. The maximum heart rate on AC was significantly lower than SIMV + PS, p = .047. Subjects breathed significantly above the set rate on SIMV + PS (p = .029), though not on AC. Subjects found it significantly easier to speak on AC, though there was no statistically significant difference in speech testing. Four subjects had multiple prolonged PS breaths on SIMV + PS. Many subjects exhibited an abnormal cadence to speech, with some speaking during both inhalation and exhalation phases of breathing.
Conclusions
There were few differences between AC and SIMV + PS, with a few parameters favoring AC that may not be clinically significant. This includes the subjective perception of ease of speech. We also found unnatural patterns of speech in children requiring HMV.
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