bluuebunny/crossref_metadata_2025 huggingface dataset:
Warming Permafrost in the Western Alps: A Further Evidence of Elevation Dependent Warming?
Authors: Pogliotti Paolo , Cremonese Edoardo , Cella Umberto Morra di
Published: November 2023

The present study aims at characterising the recent thermal evolution of permafrost in the Aosta Valley region (Italy, Western European Alps) using active layer thickness anomalies and warming trends of both surface and deep temperatures as indicators. The dataset includes monitoring sites located at different altitudes and geomorphological contexts such as rock walls, high-altitude plateau and proglacial margins.The results show that the thickness of the active layer is increasing everywhere and that anomalies are consistent between sites despite their different characteristics and distances. Significant warming trends of about +0.2°C/10y are observed at 15 m depth in sites around 3000 m of elevation. In steep rockwalls warming trends at the rock surface are significant only on the north-facing faces where values are on average +0.42°C/10y at elevations above 4000 m.The present study aims to provide a snapshot on the current thermal evolution of permafrost in the north-western Alps as well as consistent and useful information for risk management. Taking advantage of this analysis, the study also aims to highlight as the temperature measures in permafrost could contribute to the elevation-dependent-warming debate.
Datation dendrochronologique des maxima du Petit Âge Glaciaire des glaciers d’Arolla (Valais, Suisse)
Authors: Le Roy Melaine , Nicolussi Kurt , Schlüchter Christian
Published: November 2023

Les variations des glaciers lors du Petit Âge Glaciaire (PAG) sont bien connues dans les Alpes, en partie grâce à un ensemble inégalé de sources historiques. Lorsque ces dernières sont absentes, la dendrochronologie peut être utilisée pour obtenir des informations chronologiques précises sur les maxima des glaciers. Pour ce faire, il faut cibler les arbres situés en limite de l’extension maximale atteinte par les glaciers à l’époque historique. Ici, nous présentons les résultats d’analyses dendrochronologiques portant sur des bois nouvellement échantillonnés ainsi que sur des bois d’archive qui proviennent de deux glaciers des Alpes Pennines, Tsijiore Nouve et Glacier d’Arolla. Ces sites possèdent des sources historiques remontant au début du xixe siècle, c’est-à-dire légèrement plus tardives que pour les glaciers Alpins les mieux documentés. À Tsijiore Nouve, la datation combinée d’arbres enfouis dans la moraine frontale externe du PAG et d’arbres vivants limitrophes prouve la présence de la glace à proximité immédiate du site dès l’été 1813 ainsi qu’une extension maximum atteinte en 1816. Ces résultats sont parfaitement en accord avec les sources historiques qui mentionnent un maximum du PAG atteint en 1817. Au Glacier d’Arolla nous avons daté le dépôt de la moraine PAG la plus externe à l’hiver 1816/1817, ce qui est synchrone, malgré les temps de réponse différents des deux glaciers. Les dates que nous avons obtenues sont nettement plus précoces que celles disponibles pour d’autres glaciers Alpins au cours de la même période d’avancée. Nos résultats mettent en évidence le potentiel de la dendrochronologie pour obtenir des dates calendaires précises pour les maxima glaciaires et montrent — pour la première fois dans les Alpes — que certains glaciers avaient déjà atteint, ou étaient proches de, leurs maxima du PAG lorsque le refroidissement associé à l’éruption du Mont Tambora s'est produit.
The Glacier Views of Jean-Antoine Linck – A Milestone for the Mont Blanc Glacier History from the 18th to the 19th Century
Authors: Nussbaumer Samuel U. , Zumbühl Heinz J.
Published: November 2023

Interdisciplinary approaches are needed to reconstruct the behaviour of glaciers beyond the beginning of systematic measurements. For example, historical documents have been used to reconstruct former glacier extents successfully at different sites, including in the well-documented Mont Blanc area that became popular since the mid-18th century among artists, scientists, and travellers. Jean-Antoine Linck from Geneva is probably the artist to whom we owe the greatest number of unique glacier views. Linck’s special preference were the ice regions, which he discovered and drew with alpinistic daring and naturalistic correctness, preferably by gouache, although many pencil sketches are preserved. Linck subtly used the etching technique to create easily reproducible plates in large format, which are then hand-coloured with gouache and watercolour. This technique allowed him to create numerous reproductions of the same view, while still giving them a unique and original aspect, views that are remarkable for their serenity and silence, while offering luminous atmospheres. These illustrations introduced the realistic representation of the high mountains into the iconography of Genevese painting and thus led to a new kind of landscape painting with a permanent character. From a perspective of glacier history and although many of his artworks are not exactly dated by the author, the work of Jean-Antoine Linck is indispensable since it represents the whole development, specifically of the Mer de Glace and the Glacier des Bossons, but also other glaciers during the period from the end of the 18th century until the 19th century glacier maximum around 1820. Linck’s work has the same importance for the Mont Blanc area as that of Caspar Wolf and Samuel Birmann for the central Swiss Alps or Thomas Ender for the Austrian Alps in terms of glacier iconography. Therefore, Linck was both an artist and a glacier historian.
The Savage Share
Authors: Moya Ismaël
Published: November 2023

In a world brought to ruin by humans and overrun by global capitalism, no space has been left untouched by the transformations of modernity. Yet the intensification of capitalism continues to run into other obstacles than those offered by nature and by power (be this the state or militant resistance). These limits imposed on dynamics of accumulation are what we call the “savage share” of capitalism, where wealth is not domesticated to increase its yield, but captured and redirected towards alternative forms of social life. The “savage” is bound in a relationship of alterity with capitalism, which it treats as a resource and sometimes even as prey
Editorial
Authors: Franzato Carlo , Jacques Edu
Published: November 2023

We present the final issue of this editorial year, featuring a diverse range of contributions. In this volume, we carefully selected nine papers, aiming to create a thematic continuum. Interestingly, this selection resulted in an opening and concluding submission both centered around the subject of "meaning." The papers in this issue can be grouped into three categories.
Deo Leadership: How Design Executive Officers Lead Creative Organisations in Korea
Authors: Lee Younjoon , Joo Jaewoo , Cooper Rachel
Published: November 2023

The purpose of this study was to investigate how Design Executive Officers (DEOs) manage creative employees. It differs from prior leadership research in creative industries in three ways; it focused on DEOs, specified their influences on organisational level, and discovered Korea-specific insights. We conducted in-depth interviews with the seven DEOs who have run their own design agencies for over ten years and hired more than 50 employees in Korea. Our thematic analysis of the 287 quotations collected revealed that 75% of the quotations fit the existing leadership framework and the remaining 25% are two unique attributes of DEO leadership: attitudes toward deeds and business growth. Our findings contribute to the academic discussion on design driven entrepreneurship by shedding light on the changing role of designers in the entrepreneurial landscape.
What Information Do We Have on the Government's Environmental Management?
Authors: Lin Boqiang , Zhu Runqing
Published: November 2023

As one of the important pillars of China's industrial sector, the mining industry is critical to China's modernization and energy security. Based on China's provincial panel data, this paper collects the information on government's environmental management and estimates the impact of environmental regulation on China's mining industry's energy and carbon performance. The study further collects information on the industries' technological innovation and analyzes the technological innovation's moderating effect on environmental regulation. The research results indicate that the interconnection between the intensity of environmental regulations and the energy and carbon performance of the mining industry is inverted U-shaped, and mining enterprises with high levels of technological innovation have better adaptability when facing pressure from external environmental regulations. Regarding policy recommendations, it is imperative that the government should enhance the environmental policy framework, develop clean energy, and incentivize mining firms to advance technological innovation.
Whirl Flutter Test of Swept-Tip Tiltrotor Blades
Authors: Sutherland James , Tsai Frederick , Datta Anubhav
Published: November 2023

The first whirl flutter test of the Maryland Tiltrotor Rig (MTR) was recently completed in the Naval Surface Warfare Center Carderock Division (NSWCCD) 8- by 10-ft large subsonic wind tunnel. The MTR is a Froude-scaled, 4.75 ftdiameter, threebladed, semispan, floor-mounted, optionally
powered, flutter rig. This paper focuses on the swept-tip blades developed for this test. The swept-tip begins at 80%R and sweeps aft 20° to alleviate whirl flutter. Whirl flutter testing was performed in four con gurations for both blade geometries. The frequency and damping of
the wing beam and chord bending were collected at wind speeds up to 100 kt. This paper directly compares whirl utter results between the straight and swept-tip blades and demonstrates higher wing chord damping using swept-tip blades in freewheel conditions, even at lower flight speeds.
Severity of Vitamin D Deficiency in Children with Nephrotic Syndrome: A Study from Tertiary Care Center in Northern India
Authors: Maji Manideepa , Kumar Manish , Chacham Swathi , Mirza Anissa Atif , Bhat Nowneet Kumar , Mandal Saikat
Published: November 2023

In nephrotic syndrome (NS) due to podocytopathies, loss of vitamin D binding globulin along with albumin in urine leads to Vitamin D deficient state. We aimed to study the severity of vitamin D deficiency and its clinical correlation in children with NS. We performed a cross-sectional study at a tertiary care hospital in Northern India. Enrolment of children aged 1–18 years was done. Patient's detailed history, numbers of relapse, treatment details, and data regarding various immunomodulatory drugs treatment. Vitamin D level was estimated, and its status was further classified as deficiency <20 ng/mL and insufficiency 20–30 ng/mL as per Global Consensus Recommendations on evaluation, treatment, and prevention of vitamin D deficiency. Continuous variables were compared using tests such as unpaired t-test, Kruskal–Wallis test, and Wilcoxon rank sum test depending on the distribution of parameters. Categorical variables were compared using Chi-squared tests or Fisher's exact test. A total of 96 children with NS were screened, of which 77.1% had vitamin D deficiency. The mean serum vitamin D level was 14.393 ± 8.52 ng/mL. Among the 48 children of the first episode of NS 36 were deficient (36/48 = 75%). Whereas in the relapse category, 30 patients had infrequently relapsing NS (deficient 24/30 = 80%). Eleven children had frequently relapsing NS; among them, 10 were vitamin D deficient (10/11 = 90.9%), and there was a negative correlation between vitamin D level and duration of illness. Vitamin D deficiency is a common comorbidity in children with NS. Given the putative immunomodulatory property of vitamin D, this deficiency should be identified and treated routinely in all cases of NS.
Urinary Sediments as Predictors of the Histopathology of Lupus Nephritis
Authors: Gamaleldin Sally M. , Alghazaly Ghada M. , Saad Mohammed A. , Shareef Mohamed M. , Elnagar Gamal F.
Published: November 2023

Lupus nephritis (LN) is a major risk factor for morbidity and mortality in systemic lupus erythematosus (SLE). Urinalysis has an invaluable role in the diagnosis of various renal and urological diseases. Examinations of the urinary sediment using phase contrast microscopy (PCM) may add more information to help earlier diagnoses of LN. This cross-sectional study aimed to assess the possible role of the components of urinary sediment examined using PCM in discriminating the proliferative classes of LN (III and IV ± V) from the non-proliferative classes (I, II, and V), and to detect the correlation between the components of urinary sediment and indices of both activity and chronicity found by the renal biopsy. The study was conducted on 40 SLE patients for whom a renal biopsy was indicated. Clinical, demographic, and laboratory data and the results of the histopathological renal biopsy were collected. The morning before the renal biopsy; urine samples were collected from every patient and examined by PCM. Receiver operating characteristic curves were used to detect the area under the curve to predict proliferative LN. The correlations of counts of leukocytes, erythrocytes, all dysmorphic erythrocytes, acanthocytes, and stomatocytes with the indices of activity and chronicity were significant (activity:P= 0.027,P= 0.015,P= 0.033,P= 0.040, andP<0.001*; chronicity:P= 0.035,P= 0.009,P= 0.027,P= 0.010, andP<0.001, respectively). For patients with SLE, urinary sediment examinations can suggest a renal biopsy for the histopathology of LN.
Intermittent Online Postdilution Hemodiafiltration versus High-Flux Hemodialysis in Non-critical Acute Kidney Injury: A Pilot Randomized Controlled Trial
Authors: Nayak Saurabh , Prabhahar Arun , Chaudhary Manju , Bahuguna Pankaj , Yadav Ashok Kumar , Kumar Vivek , Rathi Manish , Kohli Harbir Singh , Gupta Krishan Lal , Ramachandran Raja
Published: November 2023

The preferential use of convective modes of hemodialysis (HD) for targeting hyper-cytokinemia state in sepsis-related acute kidney injury (AKI) has been questioned for its efficacy. Several studies have used predilution hemodiafiltration (HDF) in critically ill AKI patients with mixed results. In this study, we compared intermittent online postdilution HDF with the standard high-flux (HF) intermittent HD in non-critically ill patients with community-acquired (CA) AKI. In this pilot study, stable patients with CA AKI and systemic inflammatory response syndrome were included and given either postdilution online-HDF (OL-HDF) or standard HF HD outside intensive care units. The primary objectives were to assess the feasibility of conducting the study at a larger scale and to detect the differential impact of convective clearance on the rates of independence from dialysis at discharge or after 30 days. Plasma cytokine clearance was assessed as a secondary objective. Eighty consecutive AKI patients were randomized to receive dialysis in one of the treatment arms after fulfilling the eligibility criteria. The baseline parameters of clinical severity, etiology, and indications of dialysis, plus the baseline plasma cytokine profiles, were comparable. Moreover, 83% in the control arm and 71.1% in the intervention arm became independent from dialysis at discharge or at 30 days (P = 0.189). No survival advantage of postdilution OL-HDF was observed (P >0.05). Similar plasma cytokine clearance levels were noted in both arms. The current study confirms the feasibility; however, it does not support the preferential use of postdilution OL-HDF over HF-HD in non-critical patients.
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

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.
Skin Prick Tests and Subcutaneous Immunotherapy with Standardized Allergens in Children with Moderate-to-Severe Allergic Rhinitis
Authors: Mishra Nihar Ranjan , Nagaraju Karthik , Voorakaranam Kasyapi
Published: November 2023

Background:

Allergic rhinitis is common in Indian children, one of the common triggers being house dust mites. Skin prick tests (SPTs) and subcutaneous immunotherapy (SCIT) using standardized extracts of these aeroallergens are increasingly being used in the diagnosis and the management of allergic rhinitis in India.

Clinical Description:

We describe three children with moderate-to-severe allergic rhinitis who were considered ideal candidates for SCIT based on persistent typical clinical symptoms causing significant functional impairment, despite multiple medications for years, and positive family history. Each displayed characteristic local signs (crease over nasal bridge, pale nasal mucosa, and hypertrophy of the inferior nasal turbinates) and normal systemic examination.

Management:

Each of the children displayed significant sensitization with allergens containing standardized preparations of Dermatophagoides pteronyssinus (Dp) and Dermatophagoides farinae (Df) on the basis of which it was decided to start them on SCIT using the standard protocol. Large local reactions developed and were managed conservatively. All three responded well to bi-weekly shots of progressively increasing concentrations used in the induction phase of SCIT, and are currently asymptomatic on monthly maintenance doses that will continue for 2–3 years.

Conclusion:

Pediatricians should consider referring children with moderate-to-severe allergic rhinitis to Pediatric Allergists for SCIT if significant wheals are observed on SPT. SCIT not only stops the progression of disease, and improve the quality of life, but is also known to prevent the development of bronchial asthma.
Childhood Vasculitis Syndrome Mimicking Guillain Barre Syndrome
Authors: Jena Pradeep Kumar , Satpathy Swasthi Kabi , Naik Sarthak , Nayak Alok Satyaprakash
Published: November 2023

Background:

Childhood vasculitis is a heterogeneous disorder, characterized by inflammation of the blood vessel walls. Multiple organs and/or tissues are affected, either simultaneously or successively. Vascular neuropathy occurs when the vasa nervorum is affected. Presentation includes mononeuritis multiplex, acute motor/motor-sensory axonal neuropathy, pure sensory neuropathy, and chronic inflammatory demyelinating polyneuropathy. Making a diagnosis is a challenge when neurological manifestations appear for the first time or are isolated.

Clinical Description:

A 12-year-old girl presented with acute pain and progressive weakness of both lower limbs for 12 days, followed by diffuse abdominal pain and low-grade fever. Salient neurological findings were diminished power and hyporeflexia in all limbs. Guillain–Barre syndrome was suspected in view of symmetric ascending paralysis and a suggestive nerve conduction study. The child had neutrophilic leukocytosis but sterile cultures. The successive development of inflammatory demyelinating polyneuropathy, persistent fever, vasculitic phenomena (hypertension, severe myalgia, rashes, multiple infarcts, acute renal cortical necrosis, and gangrene of the digit), and elevated acute-phase reactants was suggestive of a multisystemic small-vessel and medium-sized vasculitis syndrome, such as polyarteritis nodosa (PAN). A diagnosis of PAN was established based on the satisfaction of clinical criteria.

Management:

The patient was administered pulse methylprednisolone and oral steroids, with which there was a dramatic recovery. Monthly cyclophosphamide was continued in view of major systemic involvement.

Conclusion:

Early recognition and management of childhood vasculitis syndrome is associated with good outcomes.
Recurrent Tension Pneumopericardium in a Term Neonate on High-Frequency Ventilation
Authors: Natarajan Rupesh Kumar , Becker Robert , Sheurer Johannah , Berry James M. , Aggarwal Varun
Published: November 2023

Background:

Air leak syndrome (ALS) can be seen in sick neonates on positive pressure ventilation. Tension pneumopericardium is uncommon, but life-threatening if not promptly identified and treated. Needle decompression can be life-saving. Recurrent tension pneumopericardium is difficult to treat and ideally indicates the placement of a pericardial drain under fluoroscopic guidance. We describe an alternative technique of percutaneous drain placement using intrapericardial saline infusion when the transport of the neonate to a catherization laboratory was not feasible.

Clinical Description:

A neonate with hyaline membrane disease and persistent pulmonary hypertension of new-born on high-frequency mechanical ventilation developed recurrent tension pneumopericardium that caused hemodynamic compromise.

Management:

Emergency needle decompression was performed twice. Further recurrence necessitated pericardial drain placement under echocardiographic guidance. Rapid exit of air from the pericardial cavity made advancement of the guidewire challenging. A small amount of sterile saline was injected in the pericardial space to assist advancement following which placement of the pericardial drain was successful. Subsequently, the neonate had an uneventful course and was discharged after 3 weeks.

Conclusion:

Prompt recognition and management of ALS can be life-saving. Urgent needle decompression and pericardial drain placement can be performed under fluoroscopic (ideally) or echocardiographic guidance by trained personnel. Instillation of saline in the pericardial space may assist with pericardial drain placement.
Treatment of Highly Fatal Extensive Childhood Mucormycosis with Complications
Authors: Chidambaram Aakash Chandran , Ramamoorthy Jaikumar Govindaswamy , Gulati Reena , Badhe Bhawana A
Published: November 2023

Background:

Mucormycosis is a highly fatal infection that affects immunocompromised individuals. Treatment is difficult and mortality is high when associated with complications. It is rare as a presenting feature of diabetes mellitus (DM) in children.

Clinical Description:

We describe a child who presented with extensive rhino-orbital invasive mucormycosis and subsequently diagnosed as Type 1 DM. She further developed cavernous sinus thrombosis and internal carotid artery thrombosis known to be associated with very high risk of mortality.

Management:

Aggressive medical management with posaconazole and liposomal amphotericin B for 12 weeks and early debridement of orbito-cerebral lesions led to complete resolution.

Conclusion:

Saving children with complicated extensive invasive mucormycosis is possible with aggressive prolonged antifungal therapy and early debridement of lesions.
Guillain–Barre Syndrome Following SARS-CoV-2 Infection in Children
Authors: Sinha Amrita , Varshi Sumitra , Dwivedi Deepak
Published: November 2023

Background:

Guillain–Barre Syndrome (GBS) is an autoimmune polyneuropathy involving mainly motor but also sensory and autonomic nerves. It is considered postinfectious and is been linked with many infectious organisms such as human immunodeficiency virus, Zika virus, and others. Since the onset of the pandemic, a few cases of GBS with a temporal association with SARS-CoV-2 infection has been reported in adults and children. The manifestations are similar to the classic clinical phenotype of progressive, ascending, symmetrical flaccid paralysis of the limbs with areflexia/hyporeflexia, and with or without cranial nerve involvement. This series describe three children with post-COVID GBS.

Case Description:

Three unrelated boys, 14 years, 11 years, and 7 years in age presented with varying combinations of pain, paraesthesias, and ascending weakness involving their limbs for a few days. We suspected GBS based on the clinical phenotype of rapidly progressive symmetrical weakness. The Modified National Institute of Neurological Disorders and Stroke Criteria for establishing the clinical diagnosis of GBS were satisfied. The typical albuminocytological dissociation in cerebrospinal fluid was observed in all.

Management:

The GBS was presumed to be postinfectious secondary to the COVID-19 virus in each one, based on elevated COVID-19 immunoglobulin G (IgG) and IgM antibody titers, exclusion of other common infectious organisms, and normal magnetic resonance imaging. All these patients were started on intravenous immunoglobulin and methylprednisolone. Two children recovered without any neurological deficits. The third child expired due to respiratory involvement.

Conclusion:

COVID-19 infection may result in GBS, the clinical profile of which is similar to that seen after other infectious organisms.