Articles: disease.
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Univentricular dextrocardia is a rare congenital heart disease that usually presents cyanotic manifestations from childhood. Due to the sustained dysfunction of blood oxygenation, it is very difficult to keep an asymptomatic survival. Herein, we described an interesting case of univentricular dextrocardia who suffered from initial symptoms in his middle age. ⋯ In univentricular dextrocardia, it is possible to keep a long-term asymptomatic period due to the slow progress of pathophysiology. In this population, regular cardiac function evaluation and avoiding dehydration may help improve the quality of life.
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Observational Study
Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study.
The purpose of this study was to investigate the relationship between glioma-associated oncogene homolog 1 (GLI1) rs2228226 and rs10783826 polymorphisms and congenital heart disease (CHD) risk in a Chinese Han population. Genotyping for our interested polymorphisms was performed using polymerase chain reaction-restriction fragment length polymorphism in 106 CHD patients and 112 healthy controls. Hardy-Weinberg equilibrium status in the control group was also checked via χ test. ⋯ Similarly, C allele of the polymorphism elevated CHD incidence by 1.609 folds, compared with G allele (OR = 1.609, 95%CI = 1.089-2.376). However, rs10783826 was not correlated with the occurrence of CHD. GLI1 rs2228226 polymorphism may be a risk factor for CHD in Chinese Han population, but not rs10783826.
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Lupus miliaris disseminatus faciei (LMDF) is an inflammatory granulomatous skin disease without a clear etiology that frequently involves the middle area of the face and the upper eyelids. Pathological features of the disease include caseation necrosis and epithelioid granuloma. Consensus treatment for LMDF is currently unavailable. ⋯ This case showed that ornidazole combined with recombinant bovine basic fibroblast growth factor gel might be useful in treatment of Demodex-induced LMDF. In addition, the results suggested that pathological caseation necrosis was caused by a series of inflammatory and immune responses to Demodex infection.
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Tailgut cyst (TGC) is a rare congenital disease that originates from residues of the tail intestine during the embryonic period. Most TGCs are benign lesions and the malignant transition is very rare. ⋯ We reported a rare case of a large TGC with adenocarcinoma transition. CT, MRI, and histopathology are important to diagnose TGC. Complete surgical resection is the first choice to treat TGC.
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Observational Study
A single-center analysis of primary nephrotic syndrome with acute pancreatitis in children.
Primary nephrotic syndrome (PNS) is one of the most common primary glomerular diseases in children. Patients complicated nephrotic syndrome with pancreatic lesions are rarely reported, and the clinical manifestations in children are atypical. This study has observed the incidence, clinical types, and prognosis of acute pancreatitis (AP) in children with primary nephrotic syndrome, and analyzed its related factors, early diagnosis, and treatment. ⋯ Abdominal ultrasound and enhanced CT are of high value in diagnosis. The adverse effects of tacrolimus should be concerned. Early diagnosis and timely treatment can be helpful for a prognosis.