小儿肺炎的家庭诊断

肺炎是小儿的常见病、多发病，尤其是婴幼儿，发病率高，是婴幼儿主要死亡原因之一。

急腹症的家庭诊断

急腹症是常见和多发病症，其特点主要为急剧性的腹部疼痛。临床实践表明，此病症的误诊率相对高，有医源性的（医生所致）、疾病性的（病情复杂）、自我性的（病人本身误诊）等多方面原因。自我性误诊以老年人、小儿最为多见。如果病人自己或家属能抓住急腹症的疼痛特点及其每一个环节，就可大大减少误诊率，并做到自我（家庭）诊断。

医疗电子:惠及每个人的幸福

医疗电子正在成为半导体市场发展的新热点,作为与每个人健康息息相关的技术,理应获得我们更多的关注。

Natriuretic peptide family as diagnostic/prognostic biomarker and treatment modality in management of adult and geriatric patients with heart failure： remaining issues and challenges

B-type natriuretic peptide （BNP） and N-terminal proBNP （NT-proBNP）, the key members of natriuretic peptide family have been rec- ommended as the gold standard biomarkers for the diagnosis and prognosis of heart failure （HF） according to the current clinical guidelines. However, recent studies have revealed many previously unrecognized features about the natriuretic peptide family, including more accurate utilization of BNP and NT-proBNP in diagnosing HF. The pathophysiological mechanisms behind natriuretic peptide release, breakdown, and clearance are very complex and the diverse nature of circulating natriuretic peptides and fragments makes analytical detection particu- larly challenging. In addition, a new class of drug therapy, which works via natriuretic peptide family, has also been considered promising for cardiology application. Under this context, our present mini-review aims at providing a critical analysis on these new progresses on BNP and NT-proBNP with a special emphasis on their use in geriatric cardiology settings. We have focused on several remaining issues and chal- lenges regarding the clinical utilization of BNP and NT-proBNP, which include： （1） Different prevalence and diagnostic/prognostic values of BNP isoforms; （2） methodological issues on detection of BNP; （3） glycosylation of proBNP and its effect on biomarker testing; （4） specificity and comparability of BNP/NT-proBNP resulted from different testing platforms; （5） new development of natriuretic peptides as HF treatment modality; （6） BNP paradox in HF; and （7） special considerations of using BNP/NT-proBNP in elderly HF patients. These practical discussions on BNP/NT-proBNP may be instrumental for the healthcare providers in critically interpreting laboratory results and effective management of the HF patients.

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

Hereditary spherocytosis （HS）, the most common cause of congenital hemolytic anemia, is caused by deficiency of the ery- throcyte membrane proteins. Five causative genes （ANK1, SPTB, SPTA1, SLC4AI, and EPB42） have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families. We found 34 novel mutations and four reported mutations in three known HS-causing genes--17 in ANK1, 17 in SPTB and four in SLC4A1, suggesting that ANK1 and SPTB are the major genes in Chinese patients with HS. All of the ANK1 or SPTB mutations, scattered throughout the entire genes, are non-recurrent; and most of them are null mutations, which might cause HS via a hap-loinsufficiency mechanism. De novo mutations in ANK1 or SPTB often occur with an unexpected high frequency （87.5% and 64.2%, respectively）. Our study updates our knowledge about the genetic profile of HS in Chinese and shows that family-based, especially parent-offspring trio, sequencing analysis can help to increase the diagnostic power and improve diagnostic efficiency.

Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment

A couple with a proband child of GJB2 （encoding the gap junction protein connexin 26）-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a cus- tomized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagno- sis （PGD）, noninvasive prenatal testing （NIPT）, and noninvasive prenatal diagnosis （N1PD） into the strategy. Auditory and ge- netic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a sin- gleton pregnancy. At the 13th week of gestation, genomic DNA （gDNA） from the trio family and cell-free DNA （cfDNA） from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by inva- sire procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing im- pairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.