bluuebunny/crossref_metadata_2025_split huggingface dataset:
Moderate mitral regurgitation in association with ventricular septal defect in children: Does it warrant mitral valve repair?
Authors: Ong Hao Siang , Krishnasamy Sivakumar , Rajandram Retnagowri , Amirthalingam Asthika , Yusof Tengku Nazim Tengku , Sivalingam Sivakumar 
Published: November 2024

ABSTRACT

Background:
The management of ventricular septal defect (VSD) alongside mitral regurgitation (MR) in pediatric patients remains a contentious issue due to the intricacies of cardiac surgery and the need to minimize ischemic time. Despite observations of MR regression following VSD closure, definitive guidelines for this patient subset are lacking, particularly concerning the management of the subgroup of patients with moderate MR. The objective of the study is to explore the factors influencing the choice between surgical intervention and conservative management for the mitral valve (MV) in VSD patients with moderate MR.

Materials and Methods:
A retrospective cohort study from January 2000 to December 2015, we analyzed management trends and focused on 53 patients with both VSD and moderate MR. This cohort was subdivided into four groups: first by their MV pathology, and then stratified by the receipt of intervention towards the diseased MV. Our primary goal was to identify correlations, especially concerning surgical outcomes such as mortality and need for re-operation. Statistical significance is determined when the P value is lower than 0.05.

Results:
There were no notable differences in preoperative variables across four cohort groups, apart from the cross-clamp duration which was longest in Group B intervention. Outcome analysis showed survival rates that were higher in cohort groups that underwent intervention toward the disease MV regardless of existing MV morphology, although results were not statistically significant. Cox model analysis found no correlation between the cohort groups and postoperative outcomes, but cross-clamp duration significantly correlated with mortality.

Conclusions:
In cases of VSD with moderate MR with associated pathologies of the valvular apparatus, opting for MV repair (MVr) appears to improve survival outcomes without significantly increasing postoperative morbidity. Similarly, for patients with moderate MR and isolated annular dilatation, surgical MVr is observed to have better survival trend compared to the control group.
Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association
Authors: Ventura Francesco , Barranco Rosario , Buffelli Francesca , Fulcheri Ezio , Coviello Domenico , Palmieri Antonella 
Published: November 2024

ABSTRACT
Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination. From an anamnestic point of view, the child’s sister had also died at about 1 month of age from the same pathology. In both cases, genetic tests showed a heterozygous mutation in the KCNH2 gene. The case that we presented is particularly significant as very few familial cases of Uhl disease have been described in the literature, and genetic analyses have been conducted in very few cases. It is possible that the observed mutation played a role in the onset of the disease process. However, further scientific studies with larger case series are needed to confirm our results.
Anomalous left coronary artery origin from the nonfacing sinus of pulmonary artery – Successful repair of a rare entity
Authors: George Anciline , Pavithran Sreeja , Sivakumar Kothandam , Agarwal Ravi 
Published: November 2024

ABSTRACT
Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease, presenting either in isolation or with other cardiac anomalies. The most common presentation is congestive heart failure in infancy, though some may remain asymptomatic till adulthood. A 5-month-old infant with congestive heart failure was diagnosed to have ALCAPA with severe Left ventricular (LV) dysfunction. Unlike the more common variants where the left coronary artery (LCA) arose from the facing sinuses, the LCA arose from the left anterior nonfacing sinus of the pulmonary artery at a considerable distance from the left aortic sinus. This made direct reimplantation of LCA to the aorta challenging. LCA was reimplanted to the aorta using an extrapulmonary baffle made of an autologous pulmonary flap. The postoperative period was uneventful. The LV contractility improved during the follow-up. Early diagnosis and intervention with a novel surgical technique prevented irreversible cardiac complications and mortality.
Fetal bradycardia associated with left ventricle noncompaction diagnosed as HCN4 mutations
Authors: Yonehara Kosuke 
Published: November 2024

ABSTRACT
A 35-year-old pregnant woman was referred to our hospital because of fetal bradycardia. Fetal echocardiography revealed a normal fetal heart except for slightly prominent trabeculae in the left ventricle, normal cardiac function, and fetal sinus bradycardia with a heart rate of 100 bpm. Electrocardiography (ECG) after birth revealed sinus bradycardia with a heart rate of 70–80 bpm. Transthoracic echocardiography revealed left ventricular noncompaction localized in the apex with normal cardiac function. A 24-h Holter ECG showed a heart rate range of 62–169 bpm without a pause of more than 2 s. A genome analysis performed during the neonatal period revealed a heterozygous inflame variant p.(Ser672_Asp676del)[chr15:g. 73324203_733242] in HCN4 gene. Fetuses with a heart rate less than the 3rd percentile of the gestational age should be followed and screened for congenital heart disease and cardiomyopathy. In addition, inherited arrhythmia syndrome should be considered.
Transcatheter pulmonary valve implantation with custom-made 35-mm Myval™ transcatheter heart valve
Authors: Ramakrishnan Sivasubramanian , Faisal Nabeel Valappil , Kadiyani Lamk , Gupta Saurabh Kumar , Sivaprakasam Muthukumaran Chinnasamy 
Published: November 2024

ABSTRACT
Transcatheter pulmonary valve implantation (TPVI) is the standard of care in patients with repaired tetralogy of Fallot (rTOF) presenting with right ventricular outflow tract (RVOT) dysfunction. However, the feasibility of TPVI is limited by the high cost and nonavailability of larger-sized valves for dilated native RVOT of rTOF patients. We report the first successful TPVI with a custom-made 35 mm balloon-expandable valve (Myval™) in a 30-year-old rTOF patient with severe pulmonary regurgitation and RV dysfunction.
Pediatric cardiac interventions: Innovations from India
Authors: Mantoo Mohsin Raj , Ramakrishnan Sivasubramanian 
Published: November 2024

ABSTRACT
India, owing to its population structure, faces an enormous burden of children born with congenital heart disease (CHD). Systematic challenges such as limited public health infrastructure, a shortage of trained specialists, and high out-of-pocket expenditures hinder uniform access to comprehensive CHD care. Despite these limitations, Indian pediatric cardiologists have delivered innovative and often cost-effective solutions to challenging clinical problems. Indigenous devices such as the MyVal transcatheter heart valve, Konar-MF (multifunction) occluder, and Zephyr large-diameter stents are significant achievements in their respective fields. Static balloon dilatation of interatrial septum and balloon-assisted atrial septal defect (ASD) device implantation are prime examples of many innovations that were established by Indians and followed across the world. India also helped consolidate significant interventions in children, such as percutaneous transvenous mitral commissurotomy and interventions for aortoarteritis. Notably, Indian centers have published some of the largest series on transcatheter closure of sinus venosus ASD and ruptured sinus of Valsalva aneurysm. Close collaboration with adult coronary interventionalists has facilitated innovations borrowed from coronary chronic total occlusion hardware and techniques to recanalize ductus arteriosus or membranous-type pulmonary atresia. This manuscript discusses some of India’s innovative contributions to the field of pediatric cardiac interventions.
Circumaortic duplicated left brachiocephalic vein in a patient with Tetralogy of Fallot – A rare venous ring
Authors: Jain Shantanu , Gangopadhyay Debasree , Roy Mahua , Das Shubhajit , Behera Sukanta Kumar , Khan Areeb Ahmed 
Published: November 2024

ABSTRACT
The left brachiocephalic vein (LBCV) usually passes superior and anterior to the aortic arch. In rare cases, this vein follows an anomalous course. We present a case of duplicated circumaortic LBCV in a 10-year-old child with Tetralogy of Fallot.
Complete surgical correction of tetralogy of Fallot with Ebstein’s anomaly
Authors: Rangwala Zarin S. , Ramachandran Kaushik , Sagar Sunil , Sukesan Subin , Dharan Baiju S. 
Published: November 2024

ABSTRACT
Association of Ebstein’s anomaly of tricuspid valve (TV) with tetralogy of Fallot (TOF) is extremely rare. Their coexistence is unique as they modify each other’s physiology. We report a case of a girl child having this rare combination along with Diamond–Blackfan syndrome awaiting a bone marrow transplant. She underwent intracardiac repair for TOF along with cone reconstruction of the TV, as tricuspid regurgitation of Ebstein’s anomaly would worsen with TOF correction alone. Through this surgery, we aimed to achieve a competent pulmonary valve using a transannular patch with a monocusp and adequate relief of the right ventricular tract obstruction, thus preserving the right ventricular function, as both can affect the repaired TV function in the long term. The child had an uneventful postoperative course and is asymptomatic on follow-up.
A Study of Indications, Clinical Applications, and Effects of Therapeutic Phlebotomy at a Tertiary Care Hospital Navi Mumbai
Authors: Gupta Sonal Suresh , Dhote Shweta Wasudeo , Lad Shubhangi , Dey Damayanti Radhashyam 
Published: November 2024

ABSTRACT

Background and Objectives:
The removal of blood from the body is known as phlebotomy, venesection, or bloodletting. Therapeutic phlebotomy is the preferred treatment for blood disorders where removing red blood cells or serum iron is the most effective way to manage symptoms and complications. In current medical practice, therapeutic phlebotomy is a clinically-supervised intervention for diseases such as polycythemia vera, hemochromatosis, porphyria cutanea tarda, nonalcoholic fatty liver disease, and sickle cell crisis. The aim of this study was to analyze the indications for therapeutic phlebotomy and its effects on hematocrit and hemoglobin.

Methods:
A retrospective study spanning 5 years was conducted in the department of immunohematology and blood transfusion, collecting patient clinical details, including name, age, gender, symptoms, and diagnosis.

Results:
A progressive decline in hemoglobin and hematocrit levels was noted in patients undergoing different numbers of therapeutic phlebotomy sessions. Hematocrit reduction was significantly greater in patients with four or more sessions (P < 0.001), while hemoglobin levels decreased more significantly after three sessions (P < 0.001). In conclusion, it required more phlebotomy cycles to reduce hematocrit compared to hemoglobin.

Conclusion:
Therapeutic phlebotomy is an essential part of the treatment of various diseases, especially those associated with secondary polycythemia. It is safe and cost-effective that should also be considered for use as adjunctive therapy.
Low-Level Laser Therapy with Pharmacotherapy in the Management of Myofascial Pain Dysfunction Syndrome with or without Other Temporomandibular Disorders
Authors: Shah Jigna S. , Poojary Manish K. 
Published: November 2024

Abstract

Background and Aim:
Myofascial pain dysfunction syndrome (MPDS) is one of the most important facial muscle disorders comprising signs and symptoms including pain during function, tenderness in the muscles of mastication and restricted jaw movement. The purpose of this study was to assess and compare the effectiveness of low-level laser therapy (LLLT) and combination therapy of LLLT and pharmacotherapy in the treatment of myofascial pain with or without other TMD (temporomandibular disorders).

Materials and Methods:
Forty patients with MPDS were randomly divided into two groups. Group 1 received LLLT (BiolaseTM; GA-Al-As; 940 nm) in 12 sessions. Group 2 received a combination of LLLT with the drug Aceclofenac 200 mg till the end of the 12th session. Following each session and after two months, the pain intensity, maximum mouth opening, clicking sound and jaw deviation were evaluated in both groups. Data were collected and analysed using the independent t test, Mann–Whitney U test and Friedman test (a = 0.05).

Results:
Both group 1 and group 2 showed a significant reduction in pain and a significant increase in mouth opening, which was faster in group 2 compared to group 1.

Conclusion:
Both LLLT and a combination of LLLT and drug therapy are effective in the management of myofascial pain. LLLT + pharmacotherapy combination is more efficient at improving pain and mouth opening.
Pulmonary Arteriovenous Malformations Unmasked by Refractory Hypoxia: An Unusual Presentation in Hereditary Hemorrhagic Telangiectasia
Authors: Sankar Sharmila , Rajakumar P. S. , Shuba S. , Shanmugam Vimalnath , Sekar Sabarish , Rathinasamy Jebaraj 
Published: November 2024

Abstract

Background:
Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder usually known to manifest with epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations (AVMs).

Clinical Description:
A 12-year-old girl presented with altered sensorium on hand ventilation, referred as a case of an acute cerebrovascular event due to cerebral AVM. She was afebrile with labored breathing and profound hypoxia. General and systemic examinations were unremarkable, except for clubbing in all digits.

Management and Outcome:
Investigations were largely normal, except for elevated hematocrit. Chest-X-ray showed mild infiltrates, while echocardiography was unremarkable. After stabilization and improvement of the sensorium, the child continued to have refractory hypoxemia, even with high ventilatory settings. The presence of digital clubbing and elevated hematocrit, in the background of cerebral AVM, led to suspicion of pulmonary AVM, the latter being detected by bubble contrast echocardiography and digital subtraction angiography (DSA). Genetic analysis confirmed a likely pathogenic variant in the ENG gene. Coil embolization of the pulmonary AVMs was done in stages, following which saturations improved and the child became asymptomatic.

Conclusion:
Persistent hypoxemia, in a child with cerebral AVMs, should raise suspicion of pulmonary AVMs, as a part of the disorder of HHT. Appropriate investigations can identify the AVMs and prompt intravascular intervention can be successful. Genetic analysis confirms the underlying HHT.
Long-standing, Untreated Case of Autosomal Recessive Hypercholesterolemia in a Child
Authors: Goel Neha , Kumar Akash , Chhabra Suhail , Chopra Nidhi , Agrawal Meetu 
Published: November 2024

Abstract

Background:
Autosomal recessive hypercholesterolemia (ARH), a genetic disorder of the affecting lipid metabolism. We present a child with this disorder wo was long undiagnosed, for many years.

Clinical Description:
An 8-year-old girl presented with multiple soft, painless, progressively increasing since the age of 2 years. Although lipid profiles had been found to be abnormal, she was not evaluated nor treated till 8 years of age. On examination, the swellings were present over upper and lower limbs and buttocks.

Management and Outcome:
Low-density lipoprotein (LDL) levels were elevated. Histopathology of the lesions confirmed xanthoma with immunohistochemistry being positive for CD 68 and ki67 index - 15%–20%. Next-generation sequencing homozygous mutation involving intron 15 of chromosome variant c2312-1G > A, causing loss of function variant in gene LDL receptor. The child was treated with gradually increasing doses of atorvastatin, with periodic echocardiography. There was progressive lowering of LDL over 6 months.

Conclusion:
Ignorance among pediatricians regarding this rare entity of ARH may result in lack of initiation of treatment for years, which may lead to detrimental cardiovascular complications in later life. Genetic analysis and prompt treatment can help in improving lipid parameters.
Precocious Puberty with Short Stature in a Girl: A Rare Case of Van Wyk–Grumbach Syndrome
Authors: Jain Mansi , Patnaik Lavina , Mangla Pragya , Raizada Nishant 
Published: November 2024

Abstract

Background:
Precocious puberty (PP) is common in children and manifests commonly with increased linear growth. Van Wyk–Grumbach (VWG) syndrome is a rare cause of PP with short stature and delayed bone age.

Clinical Description:
An 11-year-old girl presented with early menarche, menorrhagia, and stunted height. Examination revealed pallor, dry skin, absence of axillary and pubic hair, and the presence of breast development (Tanner stage 3). A magnetic resonance imaging of the brain by a primary physician revealed a pituitary mass and was referred to neurosurgery, who, however, referred the child to us endocrinologists.

Management and Outcome:
Standard protocol-wise approach showed short stature with delayed bone age, high levels of thyroid-stimulating hormone, follicle-stimulating hormone and prolactin, raised antithyroid peroxidase antibodies along with multicystic ovaries bilaterally, thus cliniching the diagnosis of VWG Syndrome. The patient was started on levothyroxine and showed remission of symptoms and normalization of thyroid function tests as well as pituitary size.

Conclusion:
It is important to be aware that VWG syndrome may be a cause of PP in which the increase in size of the pituitary is reversible with initiation of thyroxine therapy along with complete resolution of all symptoms, avoiding unnecessary surgical interventions.
Should premenstrual syndrome and premenstrual dysphoric disorder coexist in diagnostic manuals: Exploring the answer through citation analysis
Authors: Paul Sayanti , Pal Arghya 
Published: November 2024

ABSTRACT

Background:
Premenstrual syndrome (PMS) and premenstrual dysphoric disorders (PMDDs) both represent the most studied premenstrual disorders. Most studies have substantial prevalence of both PMS and PMDD, though the current understanding of the disorders reflects that PMDD is the more severe disorder of the two. However, there is substantial overlap in the etiopathogenesis and treatment approach of both these disorders.

Aim:
The current study thus explored trends of the use of PMS and PMDD as diagnostic entities.

Materials and Methods:
The study was conducted using Harzing’s Publish or Perish for identifying top 50 cited articles on PMS and PMDD, published between 2013 and 2023. The search and the citation metrics were obtained from Google Scholar through the mentioned software. The citation metrics of the two groups of studies were compared, and appropriate statistical maneuvers were used.

Results:
The PMS studies had a higher mean number of citations than PMDD studies. The PMDD studies tended to have a higher number of authors from Psychiatry or related background. The PMDD studies also had higher representation of institutions from the United States of America.

Conclusion:
Using citation analysis to study the utilization trends of diagnostic label is a novel approach. This study shows that there is a need for a unique diagnostic entity to represent the premenstrual disorders, and the coexistence of PMS and PMDD is redundant.
Control of Noncommunicable Diseases and Decentralization in Kerala: Results from a Qualitative Study
Authors: Fernandez Bhavya , Ravindran Rekha M. , Anju R. , Sumitha T. S. , Lakshmi G. G. , Krishnan S. Athira , Kodickal George Joseph , Nujum Zinia T. , Iype Thomas , Varma Ravi Prasad 
Published: November 2024

Abstract

Introduction:
In Kerala, strategic thinking on noncommunicable diseases (NCD) control began in the early 2000s with several localized programs being implemented, involving different levels of administration. This study was conducted to explore how the local governments are complimenting the national- and state-level programs in combating NCDs.

Materials and Methods:
This was a qualitative study incorporating a review of documents, key informant, and in-depth interviews with relevant stakeholders who had central roles in implementing NCD control activities in the state.

Results:
A myriad of innovations had been implemented by local self-governments (LSGs) at the primary, secondary, and tertiary levels of prevention across the state. LSGs often stepped in to provide human resources and medicines and improve the infrastructure and services, including laboratory services, to support the functioning of family health centers. Involvement of LSGs assisted in tackling the social determinants of health through intersectoral coordination and increased community participation.

Conclusion:
Overall, this exploration into the role of LSGs in NCD control revealed many successful models of how LSGs can contribute to the control of NCDs. If certain inadequacies like, the lack of sustainability of interventions and a heightened emphasis on secondary prevention, are addressed, the initiatives of the LSGs can assist in achieving the sustainable development goals of the state in NCD control. Training is essential for the elected leaders along with the health-care workers to analyse and interpret the locally available data, with mapping of good practices and scaling up to improve the health outcome of the population.
Therapeutic Efficacy of Flavonoid Morin against Dyslipidemia and Renal Damage in Diabetic Rat
Authors: Shali Kochuvelickakathu Sivan , Mini Saraswathy 
Published: November 2024

Abstract

Background:
Dyslipidemia is a common metabolic abnormality in diabetic patients and is a major contributor of diabetic kidney disease. The current study assessed the impact of morin, a flavonoid present in fruits and vegetables on serum lipid profile and renal function markers in rats with diabetes induced by streptozotocin.

Methodology:
Streptozotocin (40 mg/kg body weight [bwt], intraperitoneally) is used to induce diabetes in male albino Sprague–Dawley rats. After 3 days, those having blood sugar levels over 250 mg/dL were regarded as diabetic. Five distinct groups of experimental animals were constituted: Group 1: Normal control (N); Group 2: Normal rats administrated with morin at 50 mg/kg bwt (N + Mo); Group 3: Diabetic control (D); Group 4: Diabetic rats administrated with morin at 50 mg/kg bwt (D + Mo); and Group 5: Diabetic rats administrated with metformin at 100 mg/kg bwt (D + Met). Morin and metformin were provided once daily for 60 days. Blood samples of the rats were gathered for biochemical testing and results were statistically analyzed.

Results:
The elevated levels of total cholesterol, triglyceride, and low-density cholesterol of diabetic animals were significantly (P < 0.05) ameliorated by morin. While morin treatment could enhance high-density lipoprotein cholesterol (P < 0.05). Furthermore, morin decreased the serum renal function markers such as urea, uric acid, creatinine, and blood urea nitrogen.

Conclusion:
This study proved that morin improved the alternations in serum lipid profile and kidney function parameters in streptozotocin-induced diabetic rats.