Association of polycystic ovary syndrome and a non-dipping blood pressure pattern in young women

OBJECTIVE: The association between polycystic ovarian syndrome and increased cardiovascular disease risk is still a controversial issue. In light of data documenting some common pathways or common end-points, the present study was undertaken to determine whether there is a relationship between sleep blood pressure pattern disturbances and polycystic ovarian syndrome in young women. METHOD: The daytime and nighttime ambulatory blood pressures (BPs) were determined for each subject, according to the actual waking and sleeping times recorded in their individual diaries, in this cross-sectional study. RESULTS: The study group comprised 168 women (mean age: 25.7±5.5) diagnosed with polycystic ovarian syndrome, while the control group included 52 age- and BMI-matched healthy subjects (mean age: 26.1±5.4). When nocturnal BP declines very little or not at all, with the BP falling less than 10% during sleep compared with waking values, this pattern is classified as a non-dipping BP pattern. However, the non-dipping pattern of BP changes was significantly more common in polycystic ovarian syndrome patients compared to the control group (p<0.01). The prevalence of a non-dipping BP pattern was 43.4% (73 patients) in polycystic ovarian syndrome patients and 3.9% (2 patients) in the control group. CONCLUSION: Our cross-sectional study revealed that a non-dipping BP pattern is highly prevalent in polycystic ovarian syndrome patients, even if they are young and non-obese

Procedural sedation protocols with or without ketamine in pediatric gastrointestinal endoscopy: A retrospective cohort study

Objective: A considerable difference exists in pediatric endoscopy sedation practices with the optimal sedation protocol for gastrointestinal (GI) endoscopy a subject of controversy and to investigate the safety and efficacy of sedation protocols with or without ketamine in procedural sedation for pediatric GI endoscopy. Materials and Methods: A total of 78 pediatric patients who received sedation anesthesia for GI endoscopy were included in this retrospective study. Anesthesia parameters include duration time, doses of anesthetic agents, Ramsay sedation score, respiratory and hemodynamic parameters, recovery time, modified Aldrete recovery scores, and side effects. Study parameters were evaluated with respect to ketamine dose (no ketamine group (NKG), low-dose ketamine group (LDKG, ≤0.75 mg/kg), and high-dose ketamine group (HDKG, ≥1 mg/kg). Results: The upper GI endoscopy rate (58.12% vs. 90.0%, p=0.001) was significantly lower in LDKG versus HDKG. No significant changes were observed in blood pressure levels, oxygen saturation, or heart rate compared to baseline levels. No significant difference was noted between study groups in terms of recovery time, modified Aldrete recovery scores, and nausea/vomiting. Final Ramsay sedation scores were significantly higher in NKG (p<0.05) and LDKG (p<0.01) than in HDKG. Conclusion: Our findings indicate a favorable safety and efficacy profile for ketamine as a useful adjunct to procedural sedation for pediatric GI endoscopy, enabling better quality of sedation with a low risk of cardiorespiratory suppression, or serious complications

Podwyższony poziom greliny w stanie przedrzucawkowym: czy grelina jest przyjacielem czy wrogiem?

Objectives: To investigate maternal serum ghrelin levels in pregnancies complicated by preeclampsia and to explore the relationship between ghrelin level and disease severity. Materials and methods: This case-control study included 40 healthy pregnant women, 42 women with mild preeclampsia, and 40 women with severe preeclampsia. The groups were matched in terms of maternal and gestational age and body mass index. Serum ghrelin levels were measured via enzyme immunoassay. Results: Serum ghrelin levels were significantly higher in women with mild and severe preeclampsia than in healthy controls (p &lt; 0.001). Although serum ghrelin levels were somewhat higher in the severe compared to the mild preeclampsia group, the difference was not statistically significant (p &gt; 0.05). In the control group, no significant correlation was observed between ghrelin level and any other parameter, but in the preeclampsia group, serum ghrelin levels were negatively correlated with uterine artery Doppler index values and both systolic and diastolic blood pressure (all p-values &lt; 0.05). Multivariate stepwise linear regression analysis revealed that systolic blood pressure (β = 0.493, p = 0.023) was independently associated with serum ghrelin level. Conclusion: Elevated blood ghrelin levels were correlated with disease severity in pregnancies complicated by preeclampsia.Cel pracy: Ocena poziomu greliny w surowicy kobiet w ciąży powikłanej stanem przedrzucawkowym i określenie związku między poziomem greliny a ciężkością choroby. Materiał i metoda: Do badania włączono 40 zdrowych kobiet w ciąży, 42 z łagodnym stanem przedrzucawkowym i 40 z ciężkim stanem przedrzucawkowym. Grupy były dobrane pod względem wieku ciążowego, wieku matek i wskaźnika masy ciała. Poziom greliny w surowicy był mierzony metodą immunoenzymatyczną. Wyniki: Poziom greliny w surowicy był istotnie wyższy u kobiet z łagodnym i ciężkim stanem przedrzucawkowym niż w grupie kontrolnej (p &lt; 0,001). Chociaż poziom greliny w surowicy był wyższy w grupie z ciężkim stanem przedrzucawkowym niż w grupie z łagodnym stanem przedrzucawkowym, to ta różnica nie była istotna statystycznie (p &gt; 0,05). W grupie kontrolnej nie obserwowano żadnych istotnych związków pomiędzy poziomem greliny a jakimkolwiek innym parametrem, ale w grupie ze stanem przedrzucawkowym poziom greliny w surowicy był ujemnie skorelowany z indeksami przepływów Dopplera w tętnicy macicznej oraz ciśnieniem krwi skurczowym i rozkurczowym (all p-values &lt; 0,05). Wieloczynnikowa analiza regresji liniowej wykazała, że skurczowe ciśnienie krwi było niezależnym czynnikiem związanym z poziomem greliny w surowicy (β = 0,493, p = 0,023). Wnioski: Podwyższony poziom greliny we krwi był związany z ciężkością choroby w ciążach powikłanych stanem przedrzucawkowym

Congenital partial arhinia: a case report

Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or rudimentary nose. A patient with partial congenital arhinia is presented and the embryology and literature review are discussed

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

<p>Abstract</p> <p>Background</p> <p>Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated <it>TBX1 </it>as a critical gene in the pathogenesis of the syndrome. The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs.</p> <p>Methods</p> <p>We enrolled 212 patients with CTDs and 139 unrelated healthy controls. Both karyotypic analysis and multiplex ligation-dependent probe amplification were performed for all CTDs patients. Fluorescence <it>in situ </it>hybridization was performed for the patients with genetic deletions and their relatives. The <it>TBX1 </it>gene was sequenced for all patients and healthy controls. The <it>χ</it>²and Fisher's exact test were used in the statistical analysis.</p> <p>Results</p> <p>Thirteen of the 212 patients with CTDs (6.13%) were found to have the 22q11.2 deletion syndrome. Of the 13 cases, 11 presented with a hemizygous interstitial microdeletion from <it>CLTCL1 </it>to <it>LZTR1</it>; one presented with a regional deletion from <it>CLTCL1 </it>to <it>DRCR8</it>; and one presented with a regional deletion from <it>CDC45L </it>to <it>LZTR1</it>. There were eight sequence variants in the haploid <it>TBX1 </it>genes of the del22q11 CTDs patients. The frequency of one single nucleotide polymorphism (SNP) in the del22q11 patients was different from that of the non-del patients (<it>P </it>< 0.05), and the frequencies of two other SNPs were different between the non-del CTDs patients and controls (<it>P </it>< 0.05).</p> <p>Conclusions</p> <p>CTDs, especially pulmonary atresia with ventricular septal defect and tetralogy of Fallot, are the most common disorders associated with the 22q11.2 deletion syndrome. Those patients with both CTDs and 22q11.2 deletion generally have a typical or atypical deletion region within the <it>TBX1 </it>gene. Our results indicate that <it>TBX1 </it>genetic variants may be associated with CTDs.</p

A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

Mutations in RAB18 have been shown to cause the heterogeneous autosomal recessive disorder Warburg Micro syndrome (WARBM). Individuals with WARBM present with a range of clinical symptoms, including ocular and neurological abnormalities. However, the underlying cellular and molecular pathogenesis of the disorder remains unclear, largely owing to the lack of any robust animal models that phenocopy both the ocular and neurological features of the disease. We report here the generation and characterisation of a novel Rab18-mutant mouse model of WARBM. Rab18-mutant mice are viable and fertile. They present with congenital nuclear cataracts and atonic pupils, recapitulating the characteristic ocular features that are associated with WARBM. Additionally, Rab18-mutant cells exhibit an increase in lipid droplet size following treatment with oleic acid. Lipid droplet abnormalities are a characteristic feature of cells taken from WARBM individuals, as well as cells taken from individuals with other neurodegenerative conditions. Neurological dysfunction is also apparent in Rab18-mutant mice, including progressive weakness of the hind limbs. We show that the neurological defects are, most likely, not caused by gross perturbations in synaptic vesicle recycling in the central or peripheral nervous system. Rather, loss of Rab18 is associated with widespread disruption of the neuronal cytoskeleton, including abnormal accumulations of neurofilament and microtubule proteins in synaptic terminals, and gross disorganisation of the cytoskeleton in peripheral nerves. Global proteomic profiling of peripheral nerves in Rab18-mutant mice reveals significant alterations in several core molecular pathways that regulate cytoskeletal dynamics in neurons. The apparent similarities between the WARBM phenotype and the phenotype that we describe here indicate that the Rab18-mutant mouse provides an important platform for investigation of the disease pathogenesis and therapeutic interventions