-
The American Journal of Medicine Apr 2024
PubMed: 38582321
DOI: 10.1016/j.amjmed.2024.03.037 -
BMJ Case Reports Nov 2021Tension gastrothorax is a form of obstructive shock resulting from increased intrathoracic pressure due to a distended herniated stomach. The clinical features of...
Tension gastrothorax is a form of obstructive shock resulting from increased intrathoracic pressure due to a distended herniated stomach. The clinical features of tension gastrothorax are similar to the clinical features of the more common tension pneumothorax. Clinical recognition of this trauma has remained difficult especially in the tropics where most responders are not specialists. We managed a 31-year-old male who, in addition to typical features of obstructive shock secondary to increased intrathoracic pressures, had a recent meal prior to the trauma and a scaphoid abdomen at presentation. We argue that a history of a recent meal before trauma and an unusually scaphoid abdomen could be suggestive of tension gastrothorax and may help to differentiate it from tension pneumothorax. We recommend improved emergency preparedness to help recognise and treat this pathology.
Topics: Adult; Africa South of the Sahara; Humans; Male; Pneumothorax; Shock
PubMed: 34848419
DOI: 10.1136/bcr-2021-246101 -
AME Case Reports 2021We are presenting the case of a 6-year-old male patient with progeroid phenotype and severe developmental delay referred to Genetic clinic. Given the complex phenotype...
We are presenting the case of a 6-year-old male patient with progeroid phenotype and severe developmental delay referred to Genetic clinic. Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in , and genes. Patients' mother and brother were analyzed for the genetic variants in and . Both had same variants on and as our patient, with no apparent phenotypical consequences. Physical examination was remarkable for dysmorphism including plagiocephaly, low set and abnormally shaped ears, up slanted palpebral fissures, hypoplastic alae nasi, and a head circumference two standard deviations below the 3 percentile (microcephaly). Other characteristics include wrinkled skin, a broad forehead, sparse eyelashes in lower eyelid, short palpebral fissures, upturned nares, thick lips, right occipital plagiocephaly, overfolded helix and prominent anti-helix, protuberant chest, scaphoid abdomen, digitalized thumbs, and kyphosis due to low muscle tone. The patient presented abnormal EEG with evidence of epileptic discharges. A temporal bone CT showed plagiocephaly with flattening of the right occipital bone. Brain MRI showed callosal agenesis with bilateral colpocephaly with temporal horn dilatation, parahippocampal atrophy, lissencephaly and midbrain hypoplasia. The combination of gene variants mentioned above has never been reported nor correlated as the result of haploinsufficiency mechanisms. Thus, we propose haploinsufficiency and loss of heterozygosity as etiological reasons for this patient phenotype. Further proteomic studies are needed to allocate the extense of genetic influence within the clinical manifestations.
PubMed: 34805759
DOI: 10.21037/acr-21-25