Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report

Rationale: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. Patient concerns: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. Diagnosis: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. Interventions: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. Outcomes: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. Lessons: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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Publication date: Available online 24 May 2020Source: Journal of Vascular and Interventional RadiologyAuthor(s): Charles Y. Kim, Rui Dai, Qi Wang, James Ronald, Sabino Zani, Tony P. Smith
Source: Journal of Vascular and Interventional Radiology - Category: Radiology Source Type: research
Cordero, a 41-year-old Tony nominee, was initially hospitalized March 30 after developing pneumonia and later tested positive for the coronavirus.
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news
Source: European Journal of Nuclear Medicine and Molecular Imaging - Category: Nuclear Medicine Source Type: research
Condition:   Corona Virus Infection Intervention:   Drug: Baricitinib Sponsor:   IRCCS Policlinico S. Matteo Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   COVID;   Pneumonia, Viral Intervention:   Device: Bedside lung ultrasound Sponsor:   Kanuni Sultan Suleyman Training and Research Hospital Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   COVID 19;   SARS-CoV 2;   Pneumonia Interventions:   Drug: Mavrilimumab;   Drug: Placebos Sponsors:   The Cleveland Clinic;   Kiniksa Pharmaceuticals, Ltd. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conditions:   Cancer of Breast;   Cancer Colon Interventions:   Dietary Supplement: ONS Pre-op + ONS Post-op;   Dietary Supplement: ONS Pre-op + ONS Post-op + ONS Post-op 3 months;   Dietary Supplement: Usual intake Pre-op + ONS Post-op Sponsors:   International Medical University;   Kotra Pharma (M) Sdn Bhd Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Discussion Galactorrhea is a milky discharge from the breast in a non-lactating female. Neonatal galactorrhea is sometimes called “Witch’s Milk” based on ideas from the 17th century or earlier that witches would steal the milk for use in their magic. Infant breasts were often compressed to express the fluid and prevent its collection. During the 19th century, reports of breast inflammation and even abscess were reported because of this practice and it was strongly discouraged, and continues to not be recommended today. Enlargement of neonatal breasts and galactorrhea, both for males and females, is fel...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Will Rogers, director of a senior softball tournament scheduled to take place in early June in Columbia, Mo., will be hosting an event that seems inherently dangerous. In the midst of the COVID-19 pandemic, you’d be hard-pressed to find a public health expert who thinks a gathering of 60 teams from various states, with players ranging in age from 40 to 70-plus, is a good idea. The data could not be clearer: older Americans are most at risk of suffering fatal consequences of the disease caused by the novel coronavirus. However, Rogers, who will also suit up to play with the 65-and-over Kansas City Kids at the Missour...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized COVID-19 Source Type: news
This study shows the possible use of bedside chest ultrasonography as a screening tool for COVID-19 pneumonia in nursing home residents, for early detection of outbreaks and adequate management.
Source: Journal of the American Medical Directors Association - Category: Health Management Authors: Tags: Original Study - Brief Report Source Type: research
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