Medicine
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Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. ⋯ The golden principle of medicine should prevail in all medical disciplines, which states: The more you see, the more you know and conversely the more you know is the more you see.
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Observational Study
Development and validation of a risk-prediction nomogram for in-hospital mortality in adults poisoned with drugs and nonpharmaceutical agents: An observational study.
Acute poisoning with drugs and nonpharmaceutical agents represents an important challenge in the emergency department (ED). The objective is to create and validate a risk-prediction nomogram for use in the ED to predict the risk of in-hospital mortality in adults from acute poisoning with drugs and nonpharmaceutical agents. This was a prospective cohort study involving adults with acute poisoning from drugs and nonpharmaceutical agents admitted to a tertiary referral center for toxicology between January and December 2015 (derivation cohort) and between January and June 2016 (validation cohort). ⋯ Sex was also included to use the same model for men and women. The resulting nomogram showed excellent survival/mortality discrimination (area under the curve [AUC] 0.976, 95% confidence interval [CI] 0.954-0.998, P < 0.0001 for the derivation cohort; AUC 0.957, 95% CI 0.892-1, P < 0.0001 for the validation cohort). This nomogram provides more precise, rapid, and simple risk-analysis information for individual patients acutely exposed to drugs and nonpharmaceutical agents, and accurately estimates the probability of in-hospital death, exclusively using the results of objective tests available in the ED.
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Case Reports
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.
Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium. ⋯ This study reported a patient presenting as acute reversible parkinsonism, who was finally diagnosed as pseudohypoparathyroidism. It indicated us that secondary parkinsonism should be carefully differentiated for its dramatic treatment effect. And the family history of seizures might be an indicator for the consideration of pseudohypoparathyroidism.
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Metastasis of cancer cells involves shedding from the primary tumor through various means to distant tissues and organs with continued growth and formation of new metastatic tumors of the same cancer type as the original tumor. The common sites for colon cancer metastases include the pelvis, retroperitoneal lymph nodes, liver, and lungs; Colon cancer metastases to the appendix are rare, as reported in this case. ⋯ An absent right colic artery with lymph node fusion might increase the risk of appendiceal cancer metastasis.
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Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropathy and autonomic dysfunction but later involving many visceral organs, such as kidney. ⋯ This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene. Kidney is one of the most common and vulnerable organs of amyloidosis, and renal function should be closely monitored.