bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Case of Infected Renal Cyst Complicated by Renal Vein Thrombosis
Authors: Ryu Junha , Lee Seolje , Lee Tae W. , Bae Eunjin , Park Dong J. 
Published: November 2023

Abstract
Renal vein thrombosis (RVT) is not an uncommon condition in patients occurring nephrotic syndrome. Renal cyst by bacterial infection is also rare. Only one case for RVT complicated with infected renal cyst is reported in the English literature. A 78-year-old female was admitted for fever and drowsy mentality for 4 days. Contrast-enhanced computed tomography (CECT) of the abdomen showed 3.7 cm sized irregular shaped exophytic cyst well enhanced in left kidney upper pole and the left RVT. The culture of cystic fluid revealed Klebsiella pneumoniae. Our patient was effectively treated with antibiotics for 8 weeks and anticoagulant for 12 weeks. At 12-week follow-up, CECT of the kidney showed decreased cyst and nearly disappeared RVT. The possibility of RVT in patients with renal cyst infection by bacteria warrants consideration.
An Exploratory Cross-sectional Study on Public Stigma against Coronavirus Disease 2019 from Punjab
Authors: Gill Neha , Garg Jasmin , Garg Rohit 
Published: November 2023

Background:
Stigma perceived by persons affected with Coronavirus disease 2019 (COVID-19) and their family members has been reported in the literature. This study aimed to evaluate COVID-19-related public stigma in detail in a regional area of Punjab, North India.

Materials and Methods:
It was a cross-sectional, hospital-based, descriptive study. Four hundred and eighty-eight participants were recruited and administered Explanatory Model Interview Catalogue-Stigma Scale to measure public stigma against COVID-19. The data were analyzed using Mann–Whitney test and Spearman correlation coefficient.

Results:
>78.68% participants believed that people in their community avoided a person affected by COVID-19, 76.6% believed that COVID-19 caused problems for family. More than 70% participants responded that people refused to visit the home of an affected person and it created difficulties for an affected person to find work. Nearly 70% responded that people dislike buying food from an affected person. 60% participants responded that sufferers would have concerns related to disclosure of illness. On the positive side, majority participants responded that COVID-19 would not lead to difficulties in finding match for the sufferer’s marriage (57.8%) or relative’s marriage (80.3%) or would not lead to problems in ongoing marriage (61.7%). Nearly 60% also responded that people would not think less of themselves if a family member had COVID-19 and it would not cause shame and embarrassment in community (58.8%).

Conclusion:
Public stigma for COVID-19 was high in some forms (avoidance, disclosure concerns, difficulty in finding work, etc.) and low in some other forms (like marriage-related issues, shame, and embarrassment in community).
A Cross-sectional Study on the Perceived Stress and Coping Strategies and Their Correlation in the Homosexual and Bisexual Community in North-East India
Authors: Longna L. , Deb Kunal , Nagar Vishal , Ray Rumelia 
Published: November 2023

Background:
Homosexuality and bisexuality have long been prevalent in all parts of the world including India. Many efforts have been put to destigmatize and to make the lives of these people better, and it is no longer considered pathological in the diagnostic systems. Still, they experience higher stigma, discrimination, marginalization, violence, and trauma throughout their lives. Thus, research is needed to evaluate the level of stress and how they cope with it.

Objectives:
The objectives were to study the sociodemographic profiles of the participants and to explore the stress-coping skills among lesbians, gays, and bisexuals.

Methods:
It was a cross-sectional descriptive study with a sample size of 50, including 18-year and older homosexual and bisexual participants, with the employment of a snowball sampling technique. A semi-structured sociodemographic pro forma, Klein Sexual Orientation Grid, Perceived Stress Scale (PSS), and Brief Coping with Problem Experienced scales were applied.

Results:
The mean age of participants was 23.620 ± 3.630. There were 36 (72%) gay, 8 (16%) lesbian, and 6 (12%) bisexual participants. On estimation of stress, 15 (30%) participants had low stress, 27 (54%) had moderate stress, and 8 (16%) participants had high levels of stress. Among coping strategies, the highest mean was for self-distraction (5.70 ± 1.51), followed by acceptance (5.32 ± 1.20). A significant positive correlation between the PSS scores was found with self-blame and avoidant coping strategies.

Conclusion:
People with homosexual and bisexual orientation are likely to experience higher levels of stress, so it becomes vital to have more research in this field.
Three Siblings with Cohen Syndrome and a Novel Vacuolar Protein Sorting 13 Homolog B Mutation
Authors: Mir Naseer Yousuf , Hussain Altaf , Wani Khurshid Ahmad , Singh Sanjeet , Bhat Ummar M. 
Published: November 2023

Background:
Cohen syndrome (CS) is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. It is characterized by hypotonia, obesity, prominent incisors, and mental retardation. It is diagnosed by the satisfaction of various systems of clinical diagnostic criteria. Molecular confirmation is by clinical exome sequencing.

Clinical Description:
We reported three siblings from a Kashmiri family with a positive history of consanguinity. The index case, a 26-month-old boy, was diagnosed with neutropenia during the workup for recurrent respiratory infections. He was also noted to have developmental delay, short stature, obesity, microcephaly, and facial dysmorphism. Retinitis pigmentosa was found. The diagnosis of CS was established on the detection of a pathogenic novel homozygous frameshift variant in the VPS13B gene. Evaluation of the family identified two other siblings, an 11-year-old boy and a 9-year-old girl, who satisfied the clinical criteria.

Management and Outcome:
The parents underwent genetic counseling. The affected children are under follow-up by a multidisciplinary team with regular monitoring of various parameters as per standard recommendations.

Conclusion:
Pediatricians should consider the application of diagnostic criteria of CS in a child with neutropenia, short stature, developmental delay, and microcephaly, if there is a setting of consanguinity. The diagnosis should be confirmed by genetic testing.
Morbid Obesity with Severe Hypertension
Authors: Deepthi Bobbity , Krishnamurthy Sriram , Karunakar Pediredla , Gulati Reena 
Published: November 2023

Background:
Morbid obesity is a growing concern among children and adolescents, and is complicated by multitude of morbidities such as diabetes, hypertension, metabolic syndrome, and sleep disturbances. Obesity-related hypertension is a distinct phenotype in children and adolescents and needs extensive evaluation to look for underlying etiology.

Clinical Description:
We report a case of acute nephritic syndrome who presented in hypertensive emergency, was found to have morbid obesity, evaluated and diagnosed as Prader–Willi syndrome with metabolic syndrome and obstructive sleep apnea (OSA). After initial stabilization, relevant blood investigations and urinalysis confirmed the diagnosis of poststreptococcal glomerulonephritis. A carefully planned evaluation identified multiple morbidities of severe obesity and determinants for the chronic hypertension.

Management:
The morbid obesity necessitated a thorough evaluation for etiology and complications. The child was managed for hypertensive emergency and started on multiple anti-hypertensives. The identification and management of OSA led to better control of hypertension. A holistic plan was formulated to address other medical issues including the metabolic syndrome, deranged lipid profile, impaired social cognition, and behavioral issues.

Conclusion:
Obesity-related chronic hypertension was unveiled in our patient by an acute hypertensive emergency. This case underscores the importance of screening for hypertension in chronic conditions such as obesity and sleep-disordered breathing at every clinical encounter and also the need for a holistic multidisciplinary approach for managing morbid obesity.
Compound Heterozygous Mutation of SLC25A1 Gene in Glutaric Aciduria Type 2
Authors: Kadirvel Karthikeyan , Bagali Adarsh , Ramachandran Sumathisri 
Published: November 2023

Background:
Sudden unexplained postnatal collapse (SUPC) is a condition in which a newborn born at term or near term, and an Apgar score >8 at 5 min and deemed healthy, presents with sudden unexpected cardiorespiratory collapse within the 1st week of life. This can be due to multiple, heterogeneous causes.

Clinical Description:
A term male neonate developed lethargy and refusal to feed at 56 h of life. The baby was cyanosed, apneic, in peripheral circulatory failure and normothermic. Supportive management was started. Sepsis and congenital heart disease were ruled out. The presence of hypoglycemia, metabolic acidosis and hyperammonemia prompted us to think of a metabolic disorder. Metabolic profile was suggestive of glutaric acuduria (GA). Exome sequencing showed heterozygous missense variants in in exon 7 and 8 of SLC25A1 gene indicative of GA II but reported as of uncertain significance. Both parents were carriers.

Management:
The final diagnosis was neonatal onset GA II without congenital anomalies. He was started on riboflavin and carnitine. Mechanical ventilation and inotropes were gradually withdrawn and breastfeeding started. Genetic counseling was done. The baby was doing well at the 4-month follow-up visit.

Conclusions:
Identifying and managing a newborn with SUPC is critical for the outcome. An individualized and rational approach should be used to identify the cause. The management of GA II is primarily supportive with tiding over of metabolic crises and dietary modifications.
Right Ventricular Cardiac Abscess Secondary to Traumatic Osteomyelitis
Authors: Choudhary Maitri , Tomar Munesh 
Published: November 2023

Background:
A cardiac abscess is a suppurative infection involving cardiac tissues as myocardium, endocardium, and valves (native or prosthetic). The abscess could form as a direct extension of a preexisting cardiac focus such as bacterial endocarditis or from a distant septic focus leading to bacteremia.

Clinical Description:
We report an immunocompetent 3-year-old-child with a structurally normal heart presenting in septic shock secondary to right ventricle (RV) myocardial abscess. The abscess developed following hematogenous spread from neglected posttraumatic osteomyelitis of the left ankle and the causative organism was identified as methicillin sensitive Staphylococcus aureus.

Management:
Prompt action by a multidisciplinary team helped in reaching the diagnosis, effective management of septic shock, emergency open heart surgical removal of the septic mass, and concomitant lower limb arthrotomy saved the child from a bad outcome.

Conclusion:
This case reiterates the need for aggressive treatment of the open skeletal wound to prevent bacteremia and complications such as myocardial abscess. In a child presenting in septic shock, a quick point-of-care echocardiography is critical in ruling out possible underlying cardiac conditions such as bacterial endocarditis, myocardial abscess, or pericardial effusion. A high index of clinical suspicion is required to make a prompt diagnosis and aggressive medical and surgical intervention for good outcomes.
Fatty Liver in a Child
Authors: Agarwal Jaya , Hasan Ajmal , Mehrotra Mayank , Kapoor Rashmi 
Published: November 2023

Background:
Cholesteryl ester storage disease (CESD) is a rare genetic condition caused due to deficiency of the enzyme lysosomal acid lipase (LAL). The condition is characterized by poor growth, dyslipidemia, and fatty liver. There is currently no data on the prevalence of this condition in the Indian population. It can easily be confused with nonalcoholic fatty liver disease (NAFLD).

Clinical Description:
We report the case of 4-year-old boy who presented to a pediatrician with poor growth. He was born to a nonconsanguineous couple with an uneventful perinatal period. The parents felt that the child was not growing well for 2 years. At presentation, he was hemodynamically stable and anthropometrically normal. He had pallor and hepatosplenomegaly. Rest of the examination was within normal limits. Preliminary workup showed persistent transaminitis. Further evaluation revealed dyslipidemia and hepatic steatosis in the liver fibroscan. The workup for other common causes of chronic liver disease was negative, and the clinical features were suggestive of CESD. Enzyme testing is required for the confirmation of this diagnosis, which was not available at our center or any outsourcing labs.

Management:
The diagnosis of cholesteryl ester storage disease was confirmed by next-generation sequencing (NGS) with multigene panel targeting the condition. At present, this child is in process to get registered for enzyme replacement therapy.

Conclusions:
LAL deficiency is a rare and difficult to diagnose entity. It should be considered as a differential diagnosis in children presenting with chronic liver disease with dyslipidemia and in lean children with NAFLD. For rare disorders where enzyme testing is not available, NGS can be utilized for diagnosis.
Aplastic Anemia Complicating Systemic Lupus Erythematosus
Authors: Maheshwari Anu , Nadri Gulnaz , Meena Rajesh , Mahto Deonath 
Published: November 2023

Background:
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a myriad of hematological manifestations. Pancytopenia occurs in 10%–50% of cases in these patients. Rare cases of aplastic anemia have been reported with SLE but mostly in adults.

Clinical Description:
A 6-year-old child presented with fever and painful multiple joint swelling for 6 months. Examination revealed pallor and polyarthritis involving small and large joints. Hemogram, bone marrow aspiration, and biopsy established the diagnosis of aplastic anemia. Since the clinical phenotype encompassed a childhood-onset multisystemic (musculoskeletal and hematological) chronic illness with constitutional symptoms, we considered included connective tissue disorders (CTDs), systemic-onset juvenile idiopathic arthritis with macrophage activation syndrome, hematological malignancy, and disseminated tuberculosis as differentials. Investigations confirmed the diagnosis of SLE.

Management:
The patient was treated with pulse doses of intravenous methylprednisolone for SLE and daily oral cyclosporine and supportive transfusions for aplastic anemia. She showed improvement in the constitutional symptoms and hematological parameters within 6 weeks. The arthritis resolved within 6 months of therapy, after which she was continued on low-dose steroids, hydroxychloroquine, and methotrexate.

Conclusion:
In cases of aplastic anemia with atypical features of CTDs such as arthritis, uveitis, oral ulcers, rash, and photosensitivity should be worked up for underlying autoimmune disorders.
Gastric Duplication in a Preterm Neonate
Authors: Samanta Atraya , Acharyya Saugata , Acharyya Kakoli , Bhaduri Biswajit 
Published: November 2023

Background:
Gastrointestinal (GI) duplication is defined as a spherical structure with a muscular coat and is lined by a mucous membrane. It is a rare congenital anomaly.

Clinical Description:
A preterm baby born, delivered at 31 weeks, was diagnosed with respiratory distress syndrome and managed as per hospital protocol. While being weaned off from nasal continuous positive airway pressure, feeding was started. He developed vomiting and epigastric distension within 6 h.

Management:
The baby was investigated for the cause, and an early-onset sepsis was excluded. X-ray abdomen showed distended stomach and gas shadows in the bowel loops. Ultrasound did not reveal any gastric outlet obstruction, but significant gaseous distension of the stomach prompted us to make a dye study of the upper GI tract, which revealed cystic outpouching of the stomach that communicated with the gastric lumen. Similar findings were seen on computed tomographic scanning. Exploratory laparotomy performed revealed a large cyst communicating with the stomach at the lesser curvature. This was dissected out entirely from the margin of the stomach. Histopathology revealed highly congested cyst wall with an inner lining of gastric epithelium and gastric glands and an outer smooth muscle coat, confirming a gastric duplication cyst.

Conclusion:
Gastric duplication should be considered as a differential in newborns with feed intolerance, epigastric distension, and significant distension of the stomach. Although serial radiological investigations provide supportive evidence for this condition, the diagnostic confirmation is obtained by gross inspection and histopathology. In view of high risk of malignant transformation, surgical resection of the entire cyst remains the most definitive management.
Neonatal Onset Aicardi-Goutières Syndrome with Congenital Corneal Edema, Expanding the Phenotype
Authors: Jain Romit , Reddy Siva Narayana , Rao Koneru Sai Sankeerth , Konanki Ramesh 
Published: November 2023

Background:
Type I interferonopathy is a group of autoinflammatory disorders associated with enhanced type I interferon levels, due to upregulation of activation mechanisms or downregulation of negative feedback. Aicardi-Goutières syndrome (AGS) is one of these conditions, characterized by encephalopathy that usually manifests in late infancy. A rarer presentation that mimics congenital trans-placentally acquired infection or a 'pseudo-TORCH' subtype has been described.

Clinical Description:
A boy of 36-week gestational age with intrauterine growth restriction, nuchal transparency and a normal antenatal microarray assay, was delivered by cesarean section for oligohydramnios and fetal distress. The baby cried at birth, but developed mild respiratory distress and was neurologically depressed. A congenital infection was considered in view of being hypoplastic small for date with microcephaly, encephalopathy, intracerebral calcifications, multiple congenital heart lesions, and hepatosplenomegaly. Bilateral corneal edema was noted.

Management:
Supportive treatment was initiated. Mother-baby serology for congenital infections was negative. Various differential diagnoses for pseudo ToRCH presentations were considered and genetic testing planned. Exome sequencing identified a homozygous, single base pair insertion (c. 56_57insG variant) in exon 2 of TREX1 gene on chromosome 3, previously reported in AGS. The baby did not survive,

Conclusion:
This paper describes the clinical approach that was used to establish diagnosis in a neonate with “pseudo ToRCH” phenotype. It also expands the clinical phenotype of AGS by reporting a hitherto undescribed ocular finding of congenital corneal edema.
Tubercular Sinonasal Mass
Authors: Shankar Shashank , Gautam Shruti , Daryani Hitesh , Naga Rahul 
Published: November 2023

Background:
Epistaxis is common in children. Almost 60% experience at least one episode by 10 years of age. Most are benign and self-resolving. Episodes that are severe, frequent, take longer to resolve, or unilateral should be investigated. Although extrapulmonary tuberculosis (TB) is common in children, presentation as a sinonasal mass is rare.

Clinical Description:
A 4-year-old girl presented with a history of recurrent, left-sided epistaxis for 2 months, with diffuse ipsilateral facial swelling for 2 weeks. There was a history of preceding oral swelling and weight loss. Nasal endoscopy revealed a friable left nasal mass. Imaging delineated an infiltrative, highly cellular lesion in the left maxillary sinus, infiltrating surrounding bone and extending into the left nasal cavity, jaw, and orbital floor.

Management:
Endoscopic biopsy was suggestive of noncaseating granulomatous lesion. Langerhans cell histiocytosis, granulomatosis with polyangiitis and microscopic polyangiitis, and malignancy were ruled out. Nucleic acid amplification tests and culture established microbiological diagnosis of primary sinonasal TB. Initiation of antitubercular therapy led to complete recovery.

Conclusion:
The diagnosis of sinonasal TB is challenging and requires multidisciplinary collaboration. Its rarity and nonspecific presentation requires a high index of suspicion by the treating team. Clinical, histopathological, and microbiological criteria should be used to establish a diagnosis. Primary sinonasal TB is a rare entity in young immunocompetent children.
Using Drama Therapy as an Effective Intervention for Bullying among Siblings
Authors: Malhi Prahbhjot , Bharti Bhavneet 
Published: November 2023

Background:
Sibling bullying is repetitive aggressive behavior that is motivated by the desire to dominate and incite distress on the victims. It is a hidden epidemic, with nearly 50% of children being victimized sometime in their lives. Since this is associated with adverse consequences for victims and abusers, it requires prompt recognition, evaluation, and management.

Clinical Description:
We present three families of sibling bullying. Comprehensive individual in-depth interviews (individual and group) were conducted by a team of professionals. The goal was to understand the psychological impact on the children, the family dynamics, and underlying psychosocial issues. Common factors identified were inadvertent positive reinforcement of bullying by parental inability to set limits to the abuser's aggression, failure to model respectful communication, and lack of using appropriate conflict resolution strategies.

Management and Outcome:
Drama therapy was used as the primary modality of intervention. This involved putting families in hypothetical situations in which they reenacted a bullying incident. Family members played various roles interchangeably in multiple sessions. The role-plays and ensuing discussions created awareness of the adverse effects of sibling bullying on the entire family. This coupled with instruction on positive disciplining and use of conflict resolution and anger management strategies resulted in a gradual decline in bullying.

Conclusions:
Sibling bullying can be effectively managed by strategies that promote positive interpersonal relationships. Pediatricians need to recognize cases of sibling bullying and consider referral to mental health professionals for evaluation and appropriate management.