Epidermolysis bullosa (EB) includes a group of rare gesnodermatoses that result in blistering and erosions of the skin and mucous membranes. Genetically, pathogenic variants in around 20 genes are known to alter the structural and functional integrity of intraepidermal adhesion and dermo-epidermal anchorage, leading to four different types of EB. Here we report the underlying genetic causes of EB phenotypes segregating in seven large consanguineous families, recruited from different regions of Pakistan. Whole exome sequencing, followed by segregation analysis of candidate variants through Sanger sequencing, identified eight pathogenic variants, including three novel (ITGB4: c.1285G>T, and c.3373G>A; PLEC: c.1828A>G) and five previously reported variants (COL7A1: c.6209G>A, and c.1573C>T; FERMT1: c.676insC; LAMA3: c.151insG; LAMB3: c.1705C>T). All identified variants were either absent or had very low frequencies in the control databases. Our in-silico analyses and 3-dimensional (3D) molecular modeling support the deleterious impact of these variants on the encoded proteins. Intriguingly, we report the first case of a recessively inherited form of rare EBS-Ogna associated with a homozygous variant in the PLEC gene. Our study highlights the clinical and genetic diversity of EB in the Pakistani population and expands the mutation spectrum of EB; it could also be useful for prenatal diagnosis and genetic counseling of the affected families.

The aim of present paper is to highlight the significance of relaxation therapy for the reduction of anxiety related symptoms. This paper is based on a case of a girl who was suffering from fatigue and pain hampering her occupational and social life to certain level. Her problem remained unresolved through previous treatment. In psychological clinic psychological interventions of relaxation therapy were applied which included deep breath, instant vacation, ideal relaxation, visualization etc. IPAT Anxiety and IPAT Depression scale were administered before the start of therapy. Detailed history and psycho diagnostic report indicated that client could be diagnosed as having Anxiety Disorder NOS category according to the criteria of DSM-IV-TR. Subsequent to application of different techniques of relaxation therapy client also learned to do it herself at home. After twelve sessions both scales of anxiety and depression were administered again. Results showed drastic decrease in the level of anxiety and depression. Hence as reported by patient there was also reduction in muscle tension, pain, sleep disturbances and her occupational and social functioning were also restored.

Abstract-This study was undertaken in order to investigate the difference in attitude towards women in managerial position between male and female employees. It is a comparative study in which 50 employees including 25 male and 25 female participated as a sample. The minimum educational qualification was graduation. After taking their consent they were individually requested to fill in the demographic data sheet, followed by Attitudes toward Women as Managers (ATWAM) Scale. For statistical analysis t'test was applied, which indicates that there is no significant difference between males and females in their attitude towards women managers in Pakistan. Supplementary findings reveal that males residing in joint families have significantly negative sex-role stereotypes towards women as managers whereas males residing in nuclear families possess a neutral attitude towards women as managers. Further males having working mothers as well has significant positive attitude towards woman managers as compared to males having mothers who are housewives.

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The objective of this study was to investigate the predictive role of problem focused coping with autonomy (Sub domain of psychological well-being) among university student of Karachi, Pakistan. The entire sample consisting of 105 students (51 males & 55 females) was selected from university of Karachi, Pakistan. Their age range was 19-35 years (mean age = 24.85; SD =.489). Autonomy (sub domain of Psychological Well-Being Scale-Urdu version; Ansari, 2010), Self-developed Coping Styles Scale-Urdu version (Zaman, 2015) along with demographic information form was administered. It was found that use of problem focused strategies predicts autonomy among university students. Data was analyzed using descriptive and inferential statistics to address the research objectives. Results indicate that problem focused coping predicts autonomy among university students. Implications of results have been discussed.

Wilson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Sickle cell disease is a group of health disorders that affect hemoglobin in red blood cells. Sickle cell disease causes multiple manifestations and complications, including infections, delayed growth, pain crisis, and multi-organs damage. These complications can disturb the patients' vital signs, including body temperature, heart rate, and oxygen saturation. The decline in hemoglobin level is another indication of sickle cell disease due to abnormal hemoglobin that distorts red blood cells resulting in sickle cell anemia. RBCs, also called erythrocytes, are found in the blood and responsible for carrying oxygen to the body tissues attached to the hemoglobin. Optical microscopy can detect and monitor sickle cell disease, but it requires a blood sample and offline analysis, which is a time-consuming process. There is currently no known technology available to provide non-invasive monitoring solutions for sickle cell disease patients' health. Therefore, a need arises for a non-invasive and continuous monitoring solution to continuously check on sickle cell disease patients, which can be transformed into a wearable monitoring device. The proposed optical wristband consists of optical sensors that provide non-invasive and continuous health status monitoring of sickle cell disease patients using key vital signs and hemoglobin levels. A comparative study was performed among 21 participants and equally divided into three groups (non-anemic, anemic, and sickle cell disease patients). The data was collected from optical sensors, Arduino used as a processor, and continuously monitors the patient's vital signs and hemoglobin levels. Abnormal reading of any parameter alerts the user of any unhealthy status, and the parameter's trend assists the clinician in patient assessment. The body temperature and oxygen saturation levels of the anemic patients were found in the normal ranges, but the heart rate of three patients and hemoglobin of all the participants were found in aberrant ranges. The vital signs and hemoglobin levels of all sickle cell disease patients were beyond the normal ranges and significantly different (p>0.001) than non-anemic and anemic groups. Therefore, these physiological parameters monitoring has clinical importance for sickle cell disease management and early treatment.