Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q99581 (FEV)
 3,296 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Pet-1 [pheochromocytoma 12 ETS (E26 transformation-specific)] gene plays a critical role in the development of serotonin (5-HT)-modulated behaviors via its control of embryonic 5-HT neuron differentiation. Pet-1 transcription is induced exclusively in 5-HT neuron postmitotic precursors before the appearance of transmitter, and its restricted expression is maintained in the adult. However, the mechanisms that direct Pet-1 expression to this single CNS neuronal cell type are unknown. Here, we show, using transgenic methods, that genomic sequences upstream, but not downstream or within the Pet-1-coding region, are sufficient for 5-HT neuron-specific transgene expression. Enhancer sequences within a 40 kb upstream fragment directed position-independent lacZ (beta-D-galactosidase) transgene expression to the developing hindbrain before the appearance of 5-HT. Moreover, virtually all of the 5-HT neurons in the adult were lacZ positive in all of the lines examined. Transgene expression in 5-HT neurons was maintained when the 40 kb fragment was truncated on its 5' end to either 12 or 1.8 kb, although position independence was then lost. Analysis of transgene expression in Pet-1 null mice indicated that Pet-1 was required to maintain the activity of the Pet-1 enhancer region in a subset of 5-HT neurons. These findings suggest that a conserved 1.8 kb region immediately flanking the Pet-1-coding region is a critical genomic target of the transcriptional cascade that governs 5-HT neuron development and provide additional evidence for 5-HT neuron heterogeneity at the genetic level. We discuss the potential application of the Pet-1 transgenes reported here to the selective genetic manipulation of 5-HT neurons.
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PMID:A differentially autoregulated Pet-1 enhancer region is a critical target of the transcriptional cascade that governs serotonin neuron development. 1575 73

BACKGROUND Upside-down stomach (UDS) is the rarest type of hiatal hernia (HH), with organoaxial gastric volvulus. A large HH sometimes causes cardiopulmonary impairments owing to multiple factors. CASE REPORT We herein report a case of a large HH with UDS that had induced weight loss and severe cardiopulmonary dysfunction in a 74-year-old female patient who presented with shortness of breath, chest pain, severe anorexia, and weight loss of 5 kg over the 3 previous months. Chest X-ray and CT examination revealed that her heart was retracted on the right side, and the hernia contents had induced physical compression of the left lung on the cranial side. Spirometry revealed that the patient's vital capacity (VC), percentage VC, and percentage forced expiratory volume (% FEV) at 1 s were 1.32 L, 60.2%, and 67.5%, respectively. A barium swallow test confirmed a diagnosis of HH with UDS. On the basis of these findings, we performed a laparoscopic Nissen procedure, which resulted in the patient's dramatic recovery. Postoperative examinations showed that the stomach and heart were once again normally located, and the left lung had re-inflated. Postoperative spirometry dramatically improved. CONCLUSIONS A large HH causes cardiac and pulmonary compression due to mass effects and leads to cardiopulmonary dysfunction. For cases that have both a complicated HH and cardiopulmonary dysfunction owing to the mass effects of hernia contents, laparoscopic HH repair can be a good alternative procedure.
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PMID:Cardiopulmonary Impairments Caused by a Large Hiatal Hernia with Organoaxial Gastric Volvulus Showing Upside-Down Stomach: A Case Report. 3162 25

A 12-year-old girl was referred with a 7-month history of episodes of dyspnoea, stridor and a sense of chest constriction during physical exercise. These were self-limiting and never occurred at night. Physical examination was normal. An initial diagnosis of vocal cord dysfunction was made.Spirometry showed a plateau of forced expiratory flow, with a truncated aspect of the expiratory phase (figure 1). Six weeks later she described occasional dysphagia with solid foods. The barium swallow, performed only in anteroposterior projection, did not show oesophageal dilation. A bronchoscopy showed extrinsic compression of the middle lower third of the trachea and the right main bronchus. A chest CT scan was performed (figures 2 and 3).edpract;archdischild-2019-317625v1/F1F1F1Figure 1The spirometry showed a truncated expiratory phase with a substantially decreased PEF, compared with FEV1: indicating central intrathoracic airway obstruction. FEF, forced expiratory flow; FEV1, forced expiratory volume in 1 s; FIF, forced inspiratory flow; FIV1, forced inspiratory volume in 1 s; FIVC, forced inspiratory vital capacity; FVC, forced vital capacity; PEF, peak expiratory flow; PIF, peak inspiratory flow.edpract;archdischild-2019-317625v1/F2F2F2Figure 2Contrast enhanced CT axial section image showing right aortic arch (white arrow on the left) with aberrant subclavian artery (red arrow on the right) encircling the trachea and the oesophagus.edpract;archdischild-2019-317625v1/F3F3F3Figure 3CT three-dimensional reconstruction arteriography posterior view showing right aortic arch (white arrow), diverticulum of Kommerell (white star) from which the left subclavian artery (red arrow) arose. D Ao, descending aorta. QUESTIONS: What is your diagnosis?Persistent vocal cord dysfunctionAchalasiaVascular ringAsthmaWhat is the gold standard for diagnosis of VR?ECGChest radiographCT and/or MRIBronchoscopyHow should this patient be treated?Surgical correctionVideo-assisted thoracoscopyDecompression of the oesophagus with a nasogastric tubeInspiratory muscle training and ipratropium bromide inhalerWhat signs in the history pointed away from vocal cord dysfunction?Dysphagia with solid food was present.The episodes of dyspnoea and stridor never occurred at night.The episodes arose mainly on exertion.The episodes of dyspnoea and stridor were self-limiting. Answers can be found on page 2.
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PMID:A strident girl. 3165 63