Assessment of Health-Related Quality of Life in Children with Totally Corrected Tetralogy of Fallot in Sulaymaniyah, Iraq.

PURPOSE: This study examined the health-related quality of life among children who have undergone surgery for tetralogy of Fallot (TOF) compared to healthy children. DESIGN: Cross-sectional study. METHODS: The study was carried out at Children's Heart Hospital and Primary Healthcare Centers in Sulaymaniyah, Iraq, between July 1, 2022, and November 1, 2022. The study involved 400 participants, comprised of 200 parents of healthy children and 200 parents with children with repaired TOF. Data collection involved utilizing a 5-point Likert Scale questionnaire administered through direct face-to-face interviews with the parents of the children. FINDINGS: Children with surgically repaired TOF had markedly lower mean scores (P ≤ 0.001) in the overall dimension of QoL (Mean rank = 137) when compared to healthy children (Mean rank = 263). Furthermore, it was observed that children with repaired TOF had significantly lower mean scores (P < 0.001) across all subdimensions of QoL compared to their healthy counterparts. In the subject of children with repaired TOF, the impact of maternal education (illiterate and lower education) on overall QoL was found to be highly significant (P < 0.001). In addition, children with repaired TOF from lower socioeconomic status (SES) families had worse quality of life than those from medium and high SES families, with a p-value <0.001. CONCLUSIONS: Repaired TOF children exhibited notable deficiencies across all dimensions of QoL compared to healthy children. Moreover, SES emerged as a significant determinant influencing the QoL outcomes of repaired TOF children. CLINICAL EVIDENCE: Despite undergoing corrective surgery for TOF, the QoL in children with repaired TOF continues to be lower than that of their healthy counterparts. Notably, the economic and educational status of the family significantly impacts the way these children perceive and experience their QoL. This finding underscores the critical significance of factoring in socioeconomic elements when addressing the well-being of this particular group of children.

Speckle tracking echocardiography for diagnosis of right ventricular failure in children with totally corrected tetralogy of Fallot in Sulaimani, Iraq.

Objectives: The study was aimed at using speckle tracking echocardiography as a novel technique to diagnose right ventricular failure (RVF) in children with total correction of tetralogy of Fallot (TOF) through surgery. Methods: A quasi-experimental study was performed at the Children's Heart Hospital of Sulaimani for 9 months. A total of 150 children with completely repaired TOF were enrolled to investigate RVF. Conventional echocardiographic data were recorded, including right ventricular (RV) ejection fraction (EF), tricuspid annular plane systolic excursion (TAPSE), myocardial performance index (MPI), and RV end-systolic and diastolic volume (RVESV and RVEDV). Additionally, speckle tracking was performed for the regional and longitudinal strain and strain rate in four-chamber apical view. RVF diagnosis was determined on the basis of electrocardiography measurement of P-wave dispersion, T-wave dispersion, and QRS duration. Results: Children with repaired TOF who were diagnosed with RVF through conventional echocardiography exhibited abnormalities with respect to children with normal RV function, including a TAPSE of 1.3 ± 0.11 cm, RVEF of 35.5 ± 6.72, RVESV of 69.8 ± 15.13 ml, RVEDV of 110.1 ± 14.13 ml, MPI of 0.60 ± 0.12, and Pmax of 52.4 ± 14.08. The use of speckle tracking in RVF diagnosis revealed a relatively lower longitudinal strain and strain rate (-12.1 ± 2.3 and -0.9 ± 0.3, respectively) in the children with RVF. Moreover, longitudinal right ventricular strain was positively correlated with TAPSE (r = 0.656) and EF (r = 0.675), and negatively correlated with RVEDV (r = -0.684), RVESV (r = -0.718), MPI (r = -0.735), and Pmax (r = -0.767). Conclusions: The application of speckle tracking with the longitudinal RV strain and strain rate to estimate RV function in children with repaired TOF is a new advanced method that, compared with conventional echo, significantly improves the diagnosis of regional myocardial deformations and cardiac muscle motion velocity.

Supporting Depressed Mothers of Young Children with Intellectual Disability: Feasibility of an Integrated Parenting Intervention in a Low-Income Setting.

As a lifelong condition, intellectual disability (ID) remains a public health priority. Parents caring for children with ID experience serious challenges to their wellbeing, including depression, anxiety, stress and health-related quality of life. Integrated parenting interventions, which have been well evidenced for depressed mothers, may also effectively support depressed parents with a child with ID in low-resource settings such as Pakistan, and in turn optimise child outcomes. We conducted a mixed-method rater-blind feasibility randomised controlled trial, which assessed the feasibility and acceptability of the Learning Through Play in My Own Way Plus (LTP-IMOW Plus) intervention. Mothers who screened positive for depression (n = 26) with a young child (age 3-6 years) with ID were recruited from two low-resource community settings. Participants in the intervention arm (n = 13) received 12 group sessions of LTP-IMOW Plus and others (n = 13) received routine care. The intervention was feasible and acceptable with 100% retention and 100% session attendance. The intervention improved depression, anxiety, parenting stress and child socialisation score outcomes relative to the routine care arm. The framework utilised to analyse the qualitative interviews with seven participants at pre-intervention identified a range of struggles experienced by the mothers, and at post-intervention, found improved knowledge of child development and practices, improved mother-child relationships, recommendations for the intervention and perceived practical barriers and facilitators. The findings highlight the prospects for a clinical and cost-effective trial of an integrated parenting intervention to manage long-term parental mental health needs and improve child outcomes.

Successful Eradication of Hepatitis-C Virus with Sofosbuvir based Antiviral treatment results in improvement in quality of life in cirrhotic patients.

Objectives: To document improvement in quality of life in patients with Hepatitis-C related cirrhosis after successful eradication of the virus. Methods: In this observational cohort study conducted at Fatima Memorial Hospital from September 2015 to July 2017, patients with HCV were assessed for improvement in quality of life by using FACIT-F questionnaire. We compared the Quality of life (QOL) score before the start of treatment with DAAs and after achieving SVR12 in various aspects of quality of life including physical, emotional, functional and social well-being. Results: A total of 71 patients, 52 (73%) were CTP class A, 18 (25%) in B and one (1.4%) in C. The mean score of QOL before AVT was 23.93±7.04 and after achieving SVR it was 36.83±6.36 (P-value <0.001). In the subcategories, score of functional wellbeing, physical well-being and social wellbeing were significantly improved except emotional wellbeing scores. All scores improved across the spectrum of patients in the CTP class A and B. There was only one patient in the CTP-C class. Conclusion: Chronic HCV infection complicated by cirrhosis causes a significant decline in quality of life. There was a marked improvement in the functional, social and physical health of the patients after eradication of Hepatitis-C with anti-viral therapy except emotional health of the individuals.

Genetic polymorphism of fibroblast growth factor receptor 2 and trinucleotide repeat-containing 9 influence the susceptibility to HCV-induced hepatocellular carcinoma.

BACKGROUND: Fibroblast growth factor receptor 2 (FGFR2) and trinucleotide repeat-containing 9 (TRNC9) gene polymorphisms have been associated with some cancers. We aimed to assess the association of FGFR2 rs2981582 and TRNC9 rs12443621 polymorphisms with hepatocellular cancer risk. METHODS: One hundred patients with HCV-induced HCC, 100 patients with chronic HCV infection, and 100 controls were genotyped for FGFR2 rs2981582 and TNRC9 rs12443621 using allele-specific Real-Time PCR analysis. RESULTS: FGFR2 rs2981582 genotype TT was associated with increased risk of HCC when compared to controls (OR = 3.09, 95% CI = 1.24-7.68). However, it was significantly associated with a lower risk of HCC when using HCV patients as controls (OR = 0.21, 95% CI = 0.09-0.5), and T-allele of FGFR2 appears to be a protective allele against HCC in HCV patients (OR = 0.42, 95% CI = 0.21-0.85). While AG and GG genotypes of TNRC9 rs12443621 were linked with significantly increased risk of HCC (OR = 3.91, 95% CI = 2.02-7.6 and OR = 9.26, 95% CI = 3.21-26.7 respectively) and HCV patients carrying G allele were at increased risk of HCC by 2.7-fold. A significant high frequency of small tumor size and early-stage of HCC were observed in patients carrying FGFR2 rs2981582 genotype CT and TT (P = 0.029 and <0.001 respectively), while, TNRC9 rs12443621 genotype AG and GG were associated large tumor size and late-stage of HCC (P < 0.001 and 0.015 respectively). CONCLUSIONS: SNPs in rs2981582 for FGFR2 and rs12443621 for TNRC9 gene were associated with HCC susceptibility, suggesting their implication in hepatocarcinogenesis in chronically HCV-infected patients.

Prevalence and predictors of continence containment products and catheter use in an acute hospital: A cross-sectional study.

Although incontinence is common in hospital, the prevalence and predictors of continence aid use (continence wear and catheters) are poorly described. A one-day cross-sectional study was conducted in a large university hospital assessing consecutive inpatients (≥55) for their pre-admission and current use of continence aids. Barthel Index, Clinical Frailty Scale and Charlson Co-morbidity scores were recorded. Appropriateness was defined by local guidelines. 355 inpatients, median age 75±17 years, were included; 53% were male. Continence aid use was high; prevalence was 46% increasing to 58% for those ≥75. All-in-one pads were the most common, an overall prevalence of 31%. Older age, lower Barthel and higher frailty scores were associated with continence aid use in multivariate analysis. Inappropriate use of aids was high at 45% with older age being the only independent predictor. Continence aids are often used inappropriately during hospitalisation by older patients. Concerted efforts are required to address this issue.

Tetra-MnIII-Containing 30-Tungsto-4-phosphate, [MnIII4(H2O)2(P2W15O56)2]12-: Synthesis, Structure, XPS, Magnetism, and Electrochemical Study.

Reaction of the mixed-valent Mn12-acetato complex [MnIII8MnIV4O12(CH3COO)16(H2O)4] with the trilacunary Wells-Dawson-type heteropolytungstate [P2W15O56]12- in acidic acetate solution (pH 1.1) resulted in the tetra-MnIII-containing polyanion [MnIII4(H2O)2(P2W15O56)2]12- (1). Single-crystal XRD on Na12[MnIII4(H2O)2(P2W15O56)2]·84H2O (1a) revealed that four MnIII ions form a rhombic Mn4O16 core encapsulated by two [P2W15O56]12- units. X-ray photoelectron spectroscopy (XPS) data confirm the +3 oxidation state of the four manganese ions in 1. Magnetic measurements from 1.8-300 K in a 100 Oe magnetic field allowed for the extraction of full fitting parameters from the susceptibility data for 1. The negative Ja value (Ja = -2.16 ± 0.08 K, Jb = 3.24 ± 1.73 K, g = 2.35 ± 0.040, and ρ = 0.34 ± 0.03) suggests a dominant antiferromagnetic spin exchange interaction between the four MnIII ions, with the positive Jb being an accompanying result of Ja. Electrochemical studies revealed a reversible MnIV/MnIII redox couple in 1 at the +0.80 to +1.1 V potential region with E1/2 = +0.907 V.

HEP-Net opinion on the management of ascites and its complications in the setting of decompensated cirrhosis in the resource constrained environment of Pakistan.

Approximately one half of patients develop ascites within 10 years of diagnosis of compensated cirrhosis. It is a poor prognostic indicator, with only 50% surviving beyond two years. Mortality worsens significantly to 20% to 50% at one year if the ascites becomes refractory to medical therapy. Pakistan has one of the highest prevalence of viral hepatitis in the world and patients with ascites secondary to liver cirrhosis make a major percentage of both inpatient and outpatient burden. Studies indicate that over 80% of patients admitted with ascites have liver cirrhosis as the cause. This expert opinion suggests proper assessment of patients with ascites in the presence of underlying cirrhosis. This expert opinion includes appropriate diagnosis and management of uncomplicated ascites, refractory ascites and complicated ascites (including spontaneous bacterial peritonitis (SBP) ascites, hepatorenal syndrome (HRS) and hyponatremia. The purpose behind this expert opinion is to help consultants, postgraduate trainees, medical officers and primary care physicians optimally manage their patients with cirrhosis and ascites in a resource constrained setting as is often encountered in a developing country like Pakistan.

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

BACKGROUND: Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our aim was to identify and characterise the genetic cause of HMNJ. METHODS: We used whole exome and Sanger sequencing to identify a novel genetic variant associated with the disease and then carried out immunoblot, immunofluorescence and apoptosis assays to extract functional data and clarify the effect of this novel SIGMAR1 mutation. Physical and neurological examinations were performed on selected patients and unaffected individuals in order to re-evaluate clinical status of patients 20 years after the initial description of HMNJ as well as to evaluate new and previously undescribed patients with HMNJ. RESULTS: A homozygous missense mutation (c.500A>T, N167I) in exon 4 of the SIGMAR1 gene was identified, cosegregating with HMNJ in the 27 patients from 7 previously described consanguineous families and 3 newly ascertained patients. The mutant SIGMAR1 exhibits reduced expression, altered subcellular distribution and elevates cell death when expressed. CONCLUSION: In conclusion, the homozygous SIGMAR1 c.500A>T mutation causes dHMN of the Jerash type, possibly due to a significant drop of protein levels. This finding is in agreement with other SIGMAR1 mutations that have been associated with autosomal recessive dHMN with pyramidal signs; thus, our findings further support that SIGMAR1 be added to the dHMN genes diagnostic panel.

Indications and outcomes of home visits by geriatricians.

PURPOSE: The value of the home (domiciliary) visit (HV) by geriatricians at the request of general practitioners has been questioned. We analysed HVs conducted by geriatricians in a west of Ireland hospital over a 14-year period. METHODS: From 2002 to 2016, a systematic record was maintained of all HVs conducted by a geriatrician. RESULTS: Consent to publication was obtained for 114 (81%) of 141 visits performed. A HV was requested in 47 (41%) cases because the person would not attend a clinic, most having a long history of refusing care, and in 40 (35%) cases because the person was severely immobile or too unwell to leave home. In 27 (24%) cases, assessment was best conducted in the home for other reasons including squalor. Of the referrals, only 40 (35%) sought specific medical advice and 15 (13%) sought advice regarding end-of-life planning. In many cases, general advice regarding management of self-neglect, unexplained decline, poor home circumstances and undue risk taking was sought. The commonest decision [45 (39%) participants] was that no major intervention would be appropriate or achievable in the person's circumstances and having regard to his or her own preferences. Twenty-three (20%) participants were persuaded to accept a major intervention they had previously declined. In 14 (12%) cases, a palliative care approach in the home was agreed. An application to court to determine what care the person should receive occurred in five (5%) cases. Many medications were stopped. CONCLUSIONS: Home visits by geriatricians remain a valuable option for selected older people.

The forgotten disease - Lemierres syndrome.

Lemierre's syndrome refers to septic thrombosis of deep veins of the neck, is a rare and often life threatening complication following upper respiratory tract infections. We present here a case of Lemierre's syndrome in a previously healthy 30 years old female who had a febrile illness for two weeks with associated dysphagia, hoarse voice and right sided neck swelling. She was investigated for retropharyngeal and parapharyngeal abscess, granulomatosis with polyangiitis, tuberculosis and thyroiditis but finally concluded as Lemierre's syndrome based on the findings of thrombosis of the deep neck veins following respiratory tract infection, septic pulmonary emboli and clinical recovery with antibiotics and supportive care. Lemierres syndrome can be fatal if diagnosis and treatment is delayed. Strong clinical suspicion leads to early diagnosis and may prevent life threatening organ dysfunction.

Efficacy of Rifaximin in prevention of recurrence of hepatic encephalopathy in patients with cirrhosis of liver.

OBJECTIVE: To determine the efficacy of Rifaximin in prevention of repeated episodes of hepatic encephalopathy in patients with liver cirrhosis as compared to placebo. STUDY DESIGN: Triple-blind, randomized placebo-controlled trial. PLACE AND DURATION OF STUDY: Department of Gastroenterology-Hepatology, Shaikh Zayed Hospital, Lahore, from October 2012 to April 2013. METHODOLOGY: Patients in remission from recurrent hepatic encephalopathy resulting from cirrhosis were randomly assigned to receive either Rifaximin, at a dose of 550 mg twice daily (63 patients), or placebo (63 patients.) Patients were requested to take the drug orally twice daily for 6 months or until they developed a breakthrough episode of hepatic encephalopathy. RESULTS: Mean age of patients in treatment and control group was 40.21 ± 2.33 years and 42.87 ± 4.54 years respectively. The most common etiology of cirrhosis was hepatitis C followed by hepatitis B. Patients who remained free of hepatic encephalopathy during study period were 40 out of 63 patients in control group and 35 patients out of 63 patients (p = 0.56). Most of the patients who developed breakthrough hepatic encephalopathy had a MELD score range of 21-25 in both groups. The number of deaths and adverse events was similar in both groups. CONCLUSION: Over a 6-month period, treatment with Rifaximin failed to maintain remission from hepatic encephalopathy more effectively than placebo in the studied group.

Role of hedgehog signaling in ovarian cancer.

PURPOSE: In humans, several distinctive cancers result from mutations that aberrantly activate hedgehog (HH) signal transduction. Here, we investigate the role of HH signaling in ovarian cancer. EXPERIMENTAL DESIGN: We assessed the expression of different components of hedghehog pathway in primary tumor samples and cell lines. We used specific hedghehog pathway blocker to study the effect on clonal growth and proliferation of ovarian cancer cell both in vitro and in vivo. RESULTS: We show that the up-regulation of several HH pathway components is a common feature of primary ovarian tumors and cell lines. However, expression of PATCHED1 (PTCH1), a direct transcriptional target of the HH pathway, is down-regulated in ovarian cancer in direct contrast to the expression observed in other adult solid tumors. Cyclopamine, a specific HH pathway inhibitor, inhibits the proliferation and clonal growth of ovarian tumor cells in vitro and arrests ovarian tumor growth in vivo. Expression of BMI-1, a polycomb gene, is down-regulated in ovarian cancer cells following cyclopamine treatment. Overexpression of PTCH1 phenocopied the effects of cyclopamine; it down-regulated BMI-1 and reduced clonal growth in ovarian cancer cell lines. Furthermore, knocking down BMI-1 using small interfering RNA also inhibited the clonal growth of all the ovarian cancer cell lines tested. CONCLUSIONS: In brief, the constitutive low-level expression of PTCH1 contributes to proliferation and clonal growth of ovarian cancer cells by an aberrant HH signal. Because the HH pathway can be inhibited by specific inhibitors, these findings point toward possible new treatments to inhibit ovarian cancer growth.