Notes

[Analysis involving Gene Lack Varieties of Thalassemia inside Lingui Area of Guilin City].
854G > A; p. Arg285Gln was detected in the patient and the mother, which could underlie X-linked severe combined immunodeficiency.

A boy with X-SCID was diagnosed with M. bovis-associated HPS, emphasizing that X-SCID should be considered when M. bovis is detected in a male infant with low lymphocyte counts.
A boy with X-SCID was diagnosed with M. bovis-associated HPS, emphasizing that X-SCID should be considered when M. bovis is detected in a male infant with low lymphocyte counts.
Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD).

We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzyy identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.
Chronic kidney disease (CKD) patients, especially those with end stage renal disease (ESRD) undergoing hemodialysis (HD), exhibit high prevalence of periodontitis. This cross-sectional study aimed to investigate the periodontal status of HD patients and its relationship with salivary microbiome.

One hundred eight HD patients and one hundred healthy control individuals were recruited. They were subjected to periodontal examination followed by saliva samples collection for 16S rRNA gene sequencing.

The HD patients were with worse periodontal health status, and exhibited higher salivary microbial diversity and lower richness. The periodontal pathogens were significantly enriched in the HD patients. The inferred functional analyze showed microbes enriched in the HD patients were mainly related to metabolism. Despite the periodontal status and overall structure of the microbiome were not significantly altered as the HD duration prolonged, the abundance of Lachnospiraceae [G-2] sp. |HMT_096| is positively correlated with the duration of HD and the community periodontal index (CPI). Five OTUs (operational taxonomic units) belonging to the phyla Firmicutes were enriched as the duration prolonged, and four OTUs originated from the phyla Proteobacteria were negatively related with the CPI index. ESRD patients undergoing HD exhibited microbiota structural, compositional and functional differences compared with the healthy controls. And the species changed as the duration of hemodialysis prolonged.

End stage renal disease changes salivary microbiome and is a risk factor for oral dysbiosis.
End stage renal disease changes salivary microbiome and is a risk factor for oral dysbiosis.
China owns he largest aged population in the world, and the elderly adults who live in pension institutions are more likely to suffer from mental disorders than other elderly adults. The purpose of this study is to discover the risky factors of depression among nursing home residents with various sleeping quality.

We conducted a cross-sectional study in Northeastern China from May to September in 2017 using multistage sampling method and 507 elderly people without cognitive impairment in six pension institutions were interviewed. The Pittsburgh Sleep Quality Index (PSQI) and Geriatric Depression Scale (GDS) were adopted to collect the information of sleep quality and depression. We used logistic regression to analyze the factors influencing depression among the elderly adults with poor or good sleep quality.

The overall depression rate among elderly adults was 21.7%. The logistic regression analysis revealed that marital status, chronic disease, regular exercise, physical ache, filial piety and chewing ability had significant effects on the depression of the elderly with good sleep quality. Loneliness, self-caring ability, chewing ability and chronic diseases had significant effects on depression of the elderly with poor sleep quality.

The prevalence of depressive symptoms in the elderly is not high. However, sleeping quality distinguishes root causes on elderly adults depression. Therefore, the risk factors of depression among elderly adults should be analyzed separately.
The prevalence of depressive symptoms in the elderly is not high. However, sleeping quality distinguishes root causes on elderly adults depression. Therefore, the risk factors of depression among elderly adults should be analyzed separately.
Older subjects with chronic kidney disease (CKD) are often affected by multiple geriatric impairments that may benefit from a comprehensive geriatric assessment (CGA). However, ordinary execution of CGA in all these individuals would be unaffordable. We evaluated if Frailty Phenotype (FP) could identify older CKD-patients that may benefit the most from a CGA.

We evaluated 112 CKD patients not yet on dialysis (age ≥ 65 years, eGFR < 45 ml/min). FP was defined according to the criteria proposed by Fried and co-authors. CGA evaluated four domains (nutrition, physical performance, cognition and depression). OX04528 cell line Malnutrition was defined in accordance to Malnutrition-Inflammation Score (MIS) and/or by the presence of Protein Energy Wasting syndrome (PEW). Physical performance was evaluated using Short Physical Performance Battery (SPPB) and handgrip strength. Cognitive status was assessed by using Mini Mental State Examination (MMSE) and Clock Drawing Test. Mood was investigated with Geriatric Depression Scale (GDS).
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