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Exploring High-Penetrance Genes in Breast Cancer Associated Genetic Syndromes: Insights into Genetic Predisposition and Clinical Implications
Full text linkBreast cancer, the most common cancer in women globally, has a genetic predisposition in 5-10% of cases. This paper examines high-penetrant genes TP53, PTEN, CDH1, and STK11, which are associated with hereditary syndromes such as Peutz-Jeghers, Hereditary Diffuse Gastric Cancer, Cowden, and Li-Fraumeni. Mutations in these high penetrant genes significantly increases breast cancer risk, resulting in subtypes characterized by higher nuclear grading, increased invasiveness, and greater metastasis potential. Understanding the molecular mechanisms and interactions of these genes with various breast cancer subtypes is essential for improving risk assessment, early detection, and the development of personalized treatment strategies
Comparison of Empathy and Compassion Fatigue Among Mental Health and Non-Mental Health Professionals: A Cross-Sectional Study
Full text linkBackground:
Empathy refers to the ability to understand and comprehend others\u27 thoughts and emotions as if it\u27s their own, evoked by witnessing and connecting to the other person’s emotional state. Compassion fatigue, a consequence of an empathetic reaction, is the mental and physical tiredness resulting from being a witness to the suffering of others. It can result in negative consequences ultimately affecting the quality of treatment. The purpose of the study was to compare the level of empathy and compassion fatigue among mental health, and non-mental health professionals.
Methods
A comparative cross-sectional study was conducted over one year using 88 participants, with 44 mental health and 44 non-mental health professionals, to compare the level of empathy and compassion fatigue among both groups, from various hospitals across Mangalore, Karnataka. Validated questionnaires were used for data collection. The levels of empathy were assessed using Jefferson’s Scale of Physician Empathy and compassion fatigue will be assessed using the Professional Quality of Life Scale Version Five.
Results
The scores on the Empathy Scale exhibited a significant contrast between mental health and non-mental health professionals, indicating that both mental health and non-mental health professionals display noticeably different levels of empathy, with mental health professionals demonstrating higher average levels. In terms of compassion fatigue, professionals in the non-mental health field, on average, encounter higher levels of compassion fatigue compared to their mental health counterparts.
Conclusion:
The present study emphasises the early identification of workers at risk for compassion fatigue and in promoting strategies and policies in the training curriculum or workplace to foster empathy, thereby reducing the risk of burnout and stress and promoting quality of life
Dental conditions in patients with psychiatric disorders – A pilot study
Full text linkBackground: Individuals with mental illness are vulnerable to developing many physical health issues, as their oral health deteriorates due to poor self-hygiene associated with mental illness. Therefore, this pilot study was undertaken to assess the dental status of individuals with mental illness.
Method: This cross-sectional study involved 61 psychiatric patients recruited from psychiatry department. Psychiatric diagnosis was finalized as per ICD 10 criteria and dental conditions were assessed by consultant dentist.
Results: The study included 61 patients, with 31 (51%) men and 30 (49%) women aged 18 to 60 years. Most patients (54%) were urban residents, and 46% were rural. Among the patients, 39% were diagnosed with common mental disorders, 38% with severe mental disorders, and 23% with substance use disorders. Most participants with psychiatric conditions had dental caries and gingival disease, with missing teeth being common. Few participants reported grossly decayed teeth, and only 9% maintained good oral hygiene.
Conclusion: This study demonstrates a higher prevalence of dental issues among people with psychiatric disorders. It highlights the need for greater emphasis on oral health in this population and underscores the potential impact of psychiatric medications, dental hygiene habits, and socioeconomic factors on oral health outcomes
A rare case of early onset vitamin B6 dependent epilepsy
Full text linkPyridoxine dependent epilepsy (PDE) is a rare seizure disorder which manifests in neonatal period, but can be manifested in early infancy also. Seizures are seen in the first month of life in the classical form, but in the atypical form they don\u27t show up until later in life, sometimes as late as three years old. It has an autosomal recessive inheritance caused by mutation in ALDH7A1 gene, causing deficiency of alpha-aminoadepic semialdehyde dehydrogenase commonly known as antiquitin (ATQ). Its deficiency leads to accumulation of metabolites, which causes deficiency of functional form of pyridoxine. The seizures are non-responding to antiepileptic medications, , but can be controlled with pyridoxine monotherapy .Herein, we are presenting a case of neonate presented at day of life 4 with mutifocal refractory seizures, had significant family history of neonatal seizure, responded to pyridoxine therapy. Genetic evaluation revealed the ALDH7A1 homozygus gene mutation, i.e. PDE
Psychiatric Morbidity In Perinatal Women And Its Outcome In A Tertiary Care Hospital
Full text linkBackground: Pregnancy and postpartum are a period of vulnerability in a women’s life for developing mental health problems. Perinatal psychiatric illness has various adverse outcome on maternal, neonatal and child health.
Objective: To study the prevalence of psychiatric disorders and its outcome among women in the perinatal period.
Method: It is a prospective study conducted at a tertiary care hospital where antenatal and postnatal women were screened for psychiatric disorder using patient health questionnaire-9 (PHQ-9) and Edinburgh Post Natal Depression Scale (EPDS) respectively. Total of 140 women diagnosed with psychiatric disorder were followed up for a year and outcome noted.
Results: Depression (62.7%) was the most common psychiatric disorder seen in the antenatal (62.7%) and postpartum period (80%). More than 70% of the women who had psychiatric problems during antenatal care (76.3%) and postnatal period (71.6%) who were treated with psychotherapy had recovered within 12 months.
Conclusion: Comprehensive modality that includes obstetric care by early screening and psychiatric care by diagnosis and treatment, is required for optimal psychological and physical health of a women during the period of pregnancy and postpartum
Effects of Platelet-Rich Plasma and Platelet-Rich Fibrin Usage in Regenerative Endodontic Treatments: An Analysis of Root Length and Dentin Thickness
Full text linkBackground: Regenerative endodontic treatment aims to relieve symptoms and maintain root development and regeneration of pulp tissue. This study aimed to retrospectively examine and compare the use of platelet-rich plasma (PRP) and platelet-rich fibrin (PRF) in the regenerative endodontic treatment (RET) of immature necrotic teeth in terms of clinical and radiographic treatment results.
Materials and Methods: This study included patients who underwent Regenerative Endodontic Treatment (RET) at Selcuk University Faculty of Dentistry between 2014 and 2019, totalling 38 cases. After apical bleeding is induced into the canal, PRP was utilized in 16 cases, while PRF was employed in 22 cases during the treatments. The changes in root length and dentin thickness were calculated by measuring the radiographs with the help of Image J software. The success rates of the treatments were evaluated in the range of 0-3 points based on the scoring index of Bezgin et al. Changes in root length and dentin thickness, apical closure, and success score were compared statistically in PRP and PRF treatment methods.
Results: There was no statistically significant difference between the group who had treatment with PRP and those who had treatment with PRF in terms of apical closure, root length increase, and success scoring, but there was a significant difference in terms of increased dentin thickness.
Conclusions: The use of PRP and PRF in RET showed similar results in terms of treatment success. Both treatment groups showed an increase in dentin thickness and root length
Development of Pork Meatballs Supplemented with Commercial Soluble Dietary Fibres and Mimic In Vitro Simulated Gastrointestinal Digestion
Full text linkThis study investigated the effects of supplementing tapioca starch with commercially soluble dietary powder in meatballs to develop a low-glycaemic index (GI) food for people with high blood sugar levels. This work evaluates the physicochemical characteristics, texture profile analysis (TPA), proximate composition, and digestibility of carbohydrate in meatballs supplemented with commercial soluble dietary powder using 3x3 factorial completely randomised design. The physicochemical characteristics findings indicate that the colour values of GI meatballs, including L*, a*, and b*, ranged from 63.60 to 68.49, 1.52 to 3.05, and 13.86 to 16.56, respectively. The colour difference values of meatballs containing dietary fibre in treatments 4 (P10K50) and 5 (P50K50) were similar to those of the control (CTRL) treatment. Meanwhile, the dietary fibre content increased, the texture properties of hardness, springiness, cohesiveness, gumminess, and chewiness decreased. The overall proximate compositions of the meatballs showed that moisture content ranged from 76.46% to 78.30%, 14.23% to 15.98% of carbohydrate, 6.14% to 6.68% of protein, 1.35% to 1.74% of fat, and 92.46% to 102.21% of energy content. The in vitro digestion evaluation yielded results similar to the texture profile analyses. As dietary fibre increased, rapidly available glucose (RAG) levels decreased, particularly in treatments 8 (P50K100) and 9 (P100K100). Treatment 9 showed the lowest digestion constant (k) value of 0.15 min, while the control had the highest at 0.98 min. Overall, fibre-rich treatments had lower hydrolysis index (HI) and eGI values. This indicates that supplementing meatballs with dietary fibre instead of starch has the potential to reduce high blood sugar, making them a functional food option.
Keyword: Carbohydrate digestion, functional food, glycemic index, konjac, pecti
Gender Equality– A Sustainable Development Goal in progress at a Medical College and Hospital in South India
Full text linkBackground: Gender Equality is one of the most important SDG and attaining it will ensure a peaceful, prosperous and a balanced world with equal opportunities for both women and men. The Indian scenario in the field of women education has changed with mindset of most parents undergoing a paradigm shift and many girls are encouraged to attend schools, colleges and women are allowed to work. Considering the above shift, our study intended to find out if the same was true and SDG-5, Gender Equality was attained or in progress at our medical college and hospital and hence the study.
Methods: This cross sectional study was conducted for a period of one month after obtaining the clearance from the institutional ethics committee. The number of men and women employees & leaders working in the institution were taken into consideration. A Job satisfaction survey(JSS) was done by administering it in the Google form.
Results: Women employees were found to be in good number in the organization. The non-teaching staff had good number of women leaders while the teaching staff had almost equal representation with men. The JSS indicated that both men and women were satisfied equally with most of the sub-scales measured except for promotion and operating conditions.
Conclusion: The organization is in sync with SDG-5, by having greater number of women employees and leaders who are satisfied in their work environment. Gender Equality is important for every organization contributing to SDG-5, an international goal set by UN to be achieved by 2030
MAGEL2 and OCA2 Dual Mutation In A Case Of Prader-Willi Syndrome
Full text linkPrader-Willi Syndrome (PWS) is an epigenetic disorder caused by the absence of paternal gene expression on chromosome 15q11-q13. It typically presents with hypotonia, hyperphagia, obesity, and short stature. Oculocutaneous Albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin and hair, resulting from mutations in the OCA genes. Mutations in MAGEL2, a member of the melanoma-associated antigen gene (MAGE) protein family, often present with features of autism spectrum disorder and arthrogryposis. This case is notable for its presentation of dual OCA2 and MAGEL2 mutations, with an atypical phenotype of Prader-Willi Syndrome. We present a 9-year-old boy of Indian origin with intellectual developmental disability and remote symptomatic epilepsy. He exhibited an atypical phenotype, including fair skin, light-colored irises, microcephaly, carious misaligned teeth, kyphosis and generalized hypotonia. Whole-exome sequencing revealed a pathogenic heterozygous deletion of chromosome 15q11.2-q13.1, encompassing both MAGEL2 and OCA2 genes, diagnosed as Prader-Willi Syndrome. Any case of intellectual developmental disability, hypotonia, dysmorphic features and hypopigmentation should be evaluated for concurrent PWS locus-related genetic abnormalities, for comprehensive management of each case
Unveiling the Silent Specter: A Comprehensive Exploration of Silent Sinus Syndrome
Full text linkA 42-year-old individual presented to the outpatient clinic with subtle facial asymmetry noted over the past year, primarily characterized by a progressive, painless sinking of the right eye (enophthalmos). The patient reported a history of mild, intermittent nasal obstruction but no acute sinus infections, significant nasal discharge, or facial pain. Despite these mild symptoms, the patient expressed concern over the noticeable change in facial appearance and occasional double vision, which prompted a visit to the clinic.The patient described a gradual onset of the right eye appearing sunken without any preceding trauma, infection, or significant weight loss. Initially dismissed as a cosmetic irregularity, the condition slowly progressed, leading to mild diplopia, particularly when looking to the sides. Examination revealed unilateral enophthalmos of the right eye with no palpable mass or tenderness in the maxillofacial region. Nasal examination showed slight mucosal swelling but no polyps or signs of acute infection. Ophthalmologic evaluation confirmed mild enophthalmos without any significant restriction of eye movements, but Hess charting indicated slight impairment consistent with the patient\u27s diplopia reports.A high-resolution computed tomography (CT) scan of the paranasal sinuses and orbit was ordered, revealing complete opacification and collapse of the right maxillary sinus, with inferior bowing of the orbital floor—features diagnostic of Silent Sinus Syndrome. No evidence of acute sinusitis or other sinonasal pathology was observed.The patient was referred to an otolaryngology specialist for further management. Functional endoscopic sinus surgery (FESS) was performed to restore normal maxillary sinus drainage and relieve the ostium obstruction. Concurrently, an ophthalmic surgeon conducted orbital floor reconstruction to address the enophthalmos and correct the facial asymmetry. The postoperative period was uneventful, and follow-up visits showed significant improvement in the patient\u27s facial appearance and resolution of diplopia