Prevalence of Insomnia and Sleep Patterns among Liver Cirrhosis Patients

Background: Few studies are available regarding the prevalence of sleep disturbance in cirrhotic patients without overt hepatic encephalopathy. This study aimed to assess the prevalence of insomnia in stable liver cirrhosis patients who are attending the outpatient clinics at King Abdulaziz Medical City, Riyadh (KAMC-KFNGH). Methods: A cross-sectional study enrolled 200 stable patients with confirmed liver cirrhosis. We used the ICSD-2 definition to assess the prevalence of insomnia. We also collected information about sleep patterns, demographic data, the underlying cause of liver cirrhosis and the severity of liver cirrhosis using Child-Pugh scores (CTP). Results: The mean age was 58.9 (SD ± 12.2) years. Hepatitis C was the most common (60.2%) cause of liver cirrhosis among respondents. The prevalence of insomnia was 42% (84/200). Univarite analysis shows association between coffee intake and the presence of insomnia (56.9% vs. 35.9%, p-value = 0.006). The prevalence of insomnia was higher in hepatitis C (51.7%) compared to hepatitis B (36.8%) and other hepatitis (15%), p-value = 0.001. There was a significant relationship between severity of liver cirrhosis (CTP-A, CTP-C, CTP-B) and prevalence of insomnia: 55%, 36.1% and 32.1% respectively, p-value = 0.009. Insomniac patients were significantly older than non-insomniac (61.6 ± 12.0 vs. 57.0 ± 12.0 years, p = 0.008). Results from the multivariate stepwise analysis showed coffee intake (OR=2.7), hepatitis C (OR = 7.2), CTP-A (OR = 1.9), excessive daytime sleepiness (OR = 5.3) and short sleep duration (OR = 5.7) were the most strongly associated with the presence of insomnia. Conclusion: Our study showed a high prevalence of insomnia in patients with liver cirrhosis

The Association of Vitamin D Receptor Polymorphisms with Multiple Sclerosis in a Case-Control Study from Kuwait.

Vitamin D deficiency is associated with several diseases including multiple sclerosis (MS). Several factors influence vitamin D levels and its optimal multi-function maintenance. Our objective was to assess quantifiable variables influencing vitamin D level and metabolism in MS patients from Kuwait. In a case-control study involving 50 MS patients, and 50 healthy control individuals for which plasma vitamin D levels, supplement use, vitamin D receptor (VDR) variants, and skin pigmentation indices were ascertained; we found overall vitamin D levels to be deficient in both groups, and supplement use to be common practice. VDR variants TaqI and BsmI associated with MS risk, and ApaI associated with low disease progression. VDR variant FokI associated with higher vitamin D levels in both groups. We conclude that several quantifiable variables related to vitamin D associate with MS suggesting a possible clinical immuno-modulatory application of vitamin D for MS patients in Kuwait

<i>VDR</i> SNPs genotype distributions in our study cohorts.

<p><i>VDR</i> SNPs genotype distributions in our study cohorts.</p

Cohorts’ demographics, clinical characteristics and vitamin D levels and supplement use.

<p>Cohorts’ demographics, clinical characteristics and vitamin D levels and supplement use.</p

Skin pigmentation measurements from our study cohorts included constitutive melanin and erythema, and facultative melanin and erythema indices.

<p>*Denotes significant difference of p-value <0.05.</p><p>Difference in melanin indices were used to estimate sun exposure, and difference in erythema to determine skin sensitivity to sun burns.</p

Benthic foraminifera as proxies for the environmental quality assessment of the Kuwait Bay (Kuwait, Arabian Gulf): Morphological and metabarcoding approaches

: The rapid urbanization and industrialization of Kuwait and the consequent effluent discharges into marine environments have resulted in a degradation of water and sediment quality in the coastal marine ecosystems such as in the Kuwait Bay. This study investigates the ecological response of benthic foraminifera (protists) to environmental stress in the Kuwait Bay. The traditional morphological approach was compared to the innovative environmental DNA (eDNA) metabarcoding to evaluate the ecological quality status (EcoQS). Forty-six surface sediment samples were collected from selected stations in the Kuwait Bay. To detect the pollution gradient, environmental parameters from water (e.g., salinity, pH, dissolved oxygen) and sediment (e.g., grain-size, trace metals, total organic carbon, total petroleum hydrocarbons) were measured at each station. Although the foraminiferal assemblages were different in the morphological and molecular datasets, the species turnover was congruent and statistically significant. Diversity-based biotic indices derived from both morphological and metabarcoding approaches, reflect the environmental stress gradient (i.e., organic and metal contaminations) in the Kuwait Bay. The lowest values of EcoQS (i.e., bad to poor) are found in the innermost part (i.e., Sulaibikhat Bay and Ras Kazmah), while higher EcoQS values occur in the outer part of the bay. This study constitutes the first attempt to apply the foraminiferal metabarcoding to assess the EcoQS within the Arabian Gulf and presents its advantages compared to the conventional morphological approach

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets

Cavalier, Etienne/0000-0003-0947-2226; Shi, Yufei/0000-0002-6999-0191WOS: 000553452200045PubMed: 31821448Context. Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. Objective. A large kindred with 5 HR patients was recruited with dominant inheritance. the study was undertaken to investigate underlying genetic defects in HR patients. Design. Patients and their family members were initially analyzed for PHEX and FGF23 mutations using polymerase chain reaction sequencing and copy number analysis. Exome sequencing was subsequently performed to identify novel candidate genes. Results. PHEX and FGF23 mutations were not detected in the patients. No copy number variation was observed in the genome using CytoScan HD array analysis. Mutations in DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3 were also not found by exome sequencing. A novel c.979-96 T>A mutation in the SGK3 gene was found to be strictly segregated in a heterozygous pattern in patients and was not present in normal family members. the mutation is located 1 bp downstream of a highly conserved adenosine branch point, resulted in exon 13 skipping and in-frame deletion of 29 amino acids, which is part of the protein kinase domain and contains a Thr-320 phosphorylation site that is required for its activation. Protein tertiary structure modelling showed significant structural change in the protein kinase domain following the deletion. Conclusions. the c.979-96 T>A splice mutation in the SGK3 gene causes exon 13 skipping and deletion of 29 amino acids in the protein kinase domain. the SGK3 mutation may cause autosomal dominant HR.KACST Biotech grant [13-MED1765-20]This study is supported by a KACST Biotech grant 13-MED1765-20

Symptoms of Daytime Sleepiness and Sleep Apnea in Liver Cirrhosis Patients

Background/propose: Sleep disturbance and excessive daytime sleepiness (EDS) have been reported in patients with hepatic cirrhosis with no hepatic encephalopathy (HE). The objective of this study was to evaluate daytime sleepiness and risk of obstructive sleep apnea (OSA) among liver cirrhosis patients. Material and methods: A cross-sectional study was conducted at King Abdulaziz Medical City (KAMC)-Riyadh over a period of six months, using a structured questionnaire that investigated: 1) Sleep patterns and daytime sleepiness using the Epworth Sleeping Scale (ESS), and 2) The risk for sleep apnea using the Berlin Questionnaire (BQ). We enrolled patients with a confirmed diagnosis of liver cirrhosis who were being followed at the hepatology and preliver transplant clinics. Results. We enrolled 200 patients with liver cirrhosis, 57.5% of whom were male. The mean age was 60 (± SD 12.2). The reported prevalence of EDS, OSA, and both EDS and OSA were 29.5%, 42.9%, and 13.6%, respectively. The prevalence of EDS was higher in patients with Hepatitis-C and patients with DM, who experienced short sleep duration. We did not find any association between the severity of liver disease and EDS or OSA as measured by Child-Pugh scores (CPS). Conclusions. The risk of OSA and EDS is high among liver cirrhosis patients. Those patients with cirrhosis secondary to Hepatitis C are at higher risk of EDS and OSA. Both EDS and OSA affect patients designated as CPS Class A more frequently than patients designated as CPS Class B

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION

Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D-3 (1,25[OH](2)D-3). The objective of this study was to investigate VDR mutations in 11 patients from 8 TurkishArab families

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia:SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis

Abstract Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective To identify the mutation spectrum of CH-causing genes. Methods Fifty-five patients from 47 families were studied by next-generation exome sequencing. Results Mutations were identified in 52.7% of patients (29 of 55) in the following 11 genes: TG, TPO, DUOX2, SLC26A4, SLC26A7, TSHB, TSHR, NKX2-1, PAX8, CDCA8, and HOXB3. Among 30 patients with thyroid dyshormonogenesis, biallelic TG mutations were found in 12 patients (40%), followed by biallelic mutations in TPO (6.7%), SLC26A7 (6.7%), and DUOX2 (3.3%). Monoallelic SLC26A4 mutations were found in two patients, one of them coexisting with two tandem biallelic deletions in SLC26A7. In 25 patients with thyroid dysgenesis, biallelic mutations in TSHR were found in six patients (24%). Biallelic mutations in TSHB, PAX 8, NKX2-1, or HOXB3 were found once in four different patients. A monoallelic CDCA8 mutation was found in one patient. Most mutations were novel, including three TG, two TSHR, and one each in DUOX2, TPO, SLC26A7, TSHB, NKX2-1, PAX8, CDCA8, and HOXB3. SLC26A7 and HOXB3 were novel genes associated with thyroid dyshormonogenesis and dysgenesis, respectively. Conclusions TG and TSHR mutations are the most common genetic defects in Saudi patients with CH. The prevalence of other disease-causing mutations is low, reflecting the consanguineous nature of the population. SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis. </jats:sec