Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the case of a 1-month-old patient admitted for crisis of paleness, accompanied by hyporeactivity, tachycardia and polypnea; the symptoms, attenuated after detension of the abdomen, grew worse, with compromise of general conditions and respiratory failure. Chest X-ray shows the herniation of intestinal loops in the thoracic cavity. After the first emergency care, it became necessary to submit the baby to HFO and cardiovascular drugs for some hours before getting oxygenation index (OI) and circulation stabilization. Late presenting congenital diaphragmatic hernia (LCDH) is a condition that can occur during first or second infancy with respiratory or abdominal symptoms, quickly worsening or intermittent. The prognosis is good if diagnosis is timely. Patient stabilization before surgical intervention must be valued not only by O.I. but also by circulation conditions.
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PMID:Delayed presentation of congenital diaphragmatic Bochdalek hernia. Case report. 1290 Jul 14

Lung hernia following minimally invasive mitral valve surgery is an uncommen entity. We report the case of a male patient who developed a lung hernia as a sequela to limited access mitral valve surgery. Two months after discharge, the patient presented with a bulge in the region of the lateral thoracotomy related to respiration which could be provoked by a Valsalva maneuver. In the night following admission the patient had acute cardiovascular decompensation with worsening dyspnea, pallor and hypotension. The patient was quickly transferred to the ICU, where a chest X-ray revealed the presence of a large hemothorax with compression of the entire right lung. We transferred the patient to the operation room, evacuated the hemothorax and reconstructed the 15-cm long and 3-cm wide dehiscence using a GoreTex patch adapted in a special technique.
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PMID:Life-threatening hemothorax resulting from lung hernia after minimally invasive mitral valve surgery. 2142 58

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.
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PMID:A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 3074 12