Prominent T-wave and ST-segment elevation on electrocardiogram during neonatal seizure

A female infant weighing 2476  g was delivered at 38 weeks of gestation. Since the infant appeared apneic, mechanical ventilation was started. The infant also showed muscle wasting and hypotonia, conspicuous fasciculations of the lingula, absent motility, and areflexia, which were clearly indicative of severe neuromuscular impa irment. In addition, scoliosis, bilateral sensorineural hearing loss, and bilateral cataracts were identified. The laboratory data from blood and cerebrospinal fluid examinations and any genetic test showed normal findings.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Images Source Type: research

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Authors: Dong Y, Li G Abstract Nonalcoholic fatty liver disease (NAFLD) is one of the most common forms of chronic liver disease in developed countries and is associated with type 2 diabetes mellitus, obesity, hypertension, dyslipidemia, and metabolic syndrome. It is defined as steatosis in over 5% of hepatocytes. The disease spectrum of NAFLD ranges from simple fatty liver to nonalcoholic steatohepatitis, liver fibrosis, even hepatic cirrhosis. The disease affects various extra-hepatic systems such as the cardiovascular system and urinary system. Heart-related disease is identified as the leading cause of mor...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
This study aimed to examine the effects of warm steam inhalation before bedtime on subsequent sleep quality. The participants included 17 adult men with mild sleep difficulties and anxiety. All experiments were conducted in the participants' homes. The participants were instructed to wear a warm steam-generating mask or sham mask over the nose and mouth for 15 minutes immediately before habitual bedtime and were then allowed to sleep until their habitual waking time. The functional mask provided approximately 600 mg of steam for 10 minutes and maintained an interior temperature of 38-40°C for 15&th...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Aletta The soundscape is defined by the International Standard Organization (ISO) 12913-1 as the human’s perception of the acoustic environment, in context, accompanying physiological and psychological responses. Previous research is synthesized with studies designed to investigate soundscape at the ‘unconscious’ level in an effort to more specifically conceptualize biomarkers of the soundscape. This review aims firstly, to investigate the consistency of methodologies applied for the investigation of physiological aspects of soundscape; secondly, to underline the feasibility of physiologi...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Review Source Type: research
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive  inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
KJ, Ribes A PMID: 30427553 [PubMed - in process]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
We present a 5‐year‐old female with a distinctive phenotype comprising global developmental delays, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, proptosis, a small nose, and a small jaw. Her ocular findings included corneal clouding, colobomas of the iris and optic nerve, and posterior subcapsular cataracts. Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4‐beta‐galactosyltransferase, polypeptide 7 (B4GALT7) gene. Variant segregation was consistent with aut...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research
We present a 5‐year‐old female with a distinctive phenotype comprising global developmental delays, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, proptosis, a small nose, and a small jaw. Her ocular findings included corneal clouding, colobomas of the iris and optic nerve, and posterior subcapsular cataracts. Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4‐beta‐galactosyltransferase, polypeptide 7 (B4GALT7) gene. Variant segregation was consistent with aut...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research
Objective: To update the 2005 American Academy of Neurology (AAN) guideline on corticosteroid treatment of Duchenne muscular dystrophy (DMD). Methods: We systematically reviewed the literature from January 2004 to July 2014 using the AAN classification scheme for therapeutic articles and predicated recommendations on the strength of the evidence. Results: Thirty-four studies met inclusion criteria. Recommendations: In children with DMD, prednisone should be offered for improving strength (Level B) and pulmonary function (Level B). Prednisone may be offered for improving timed motor function (Level C), reducing the need ...
Source: Neurology - Category: Neurology Authors: Tags: All Neuromuscular Disease, All Pediatric SPECIAL ARTICLE Source Type: research
The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi‐institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe. Though dysmorphic features were commonly reported, patients do not have consistent and recognizable featur...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Research Article Source Type: research
Like most physicians, I feel extremely rushed during the course of my work day. And every day I am tempted to cut corners to get my documentation done. The “if you didn’t document it, it didn’t happen” mantra has been beaten into us, and we have become enslaved to the quantitative. It’s tempting to rush through physical exams, assuming that if there’s anything “really bad” going on with the patient, some lab test or imaging study will eventually uncover it. Just swoop in, listen to the anterior chest wall, ask if there’s any new pain, and dash off to the next hospital b...
Source: Better Health - Category: American Health Authors: Tags: Health Tips True Stories Diagnosis Don't Skimp Patient Satisfaction Physical Exam quality healthcare Respect Winning Confidence Source Type: blogs
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