ABSTRACT
Objective To analyze the clinical manifestations and possible gene mutation sites of Chinese patients in order to improve the clinician's understanding of CHARGE syndrome. Methods Clinical data were collected and blood samples were obtained from the proband of CHARGE syndrome and their relatives. The peripheral blood DNA was extracted and sequenced by PCR amplification. Mutation sites were verified by Sanger sequencing. Results For the first proband, a heterozygous mutation was detected in the intron 10 of CHD7 gene. His parents and brother did not have mutation. For the second proband, total repeat sequence in exon 7 of CHD7 gene was detected. His father carried the same mutation and his mother did not have mutation. Conclusion For the patients who are diagnosed with CHARGE syndrome based on the clinical manifestations, genetic mutation detection should be proceeded. It is useful for studying possible genetic pathogenesis and enhancing the awareness of clinicians.
ABSTRACT
Objective: To analyze the electrocardiographic (ECG) characteristics in patients with primary hyperparathyroidism (PHPT) and meanwhile, to explore the relationship between ECG abnormality and serum calcium level in relevant patients. Methods: Our study included 2 groups: Observation group,n=84 PHPT patients treated in our hospital from 2010-01 to 2014-04 and Control group,n=80 normal subjects from regular physical examination at the same period. The ECG manifestation was compared between 2 groups. Meanwhile, according to tertile levels of serum calcium, PHPT patients were further divided into 3 subgroups:①Ca2+ level (2.0-2.8) mmol/L,②Ca2+ level (2.8-3.1) mmol/L,③Ca2+ level >3.1 mmol/L andn=28 in each subgroup. The ECG abnormalities were compared among 3 subgroups and the relationship between ECG changes and serum calcium levels were studied. Results: The ECG abnormality rates in Observation group and Control group were as 83.3% vs 18.8%, P<0.001. Compared with Control group, Observation group presented more frequent ST-T changes, QRS duration widening, high left ventricular pressure and QT interval shortening,P<0.001 orP<0.05. In observation group, with the rising of serum calcium, the incidences of ST-T changes and high left ventricular pressure were increased accordingly, the ST-T changes among 3 subgroups were significant,P<0.05; while with the rising of serum calcium, the QT interval was shortened and QRS duration was widened accordingly, the differences were obvious among 3 subgroups, allP<0.05.Conclusion: PHPT patients have the higher incidence with abnormal ECG, while ECG abnormality has beenrelated to serum calcium level in relevant patients.