bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre
Authors: Syal Simran , Rao Sudha , Joshi Rajesh , Keshwani Rachna , Bodhanwala Minnie 
Published: June 2023

Background:
Primary dyslipidaemia in children is a rare inherited disorder of lipoprotein metabolism with debilitating sequelae and poor outcomes. Lipid-lowering drugs have less often been used in children and long-term outcome studies are scarce. The purpose of this study was to understand the clinical and laboratory profile, response to treatment on follow up and outcome of primary dyslipidaemia in Indian children.

Methods:
Clinical records, including historical details, examination features and laboratory and radiological evaluation of children diagnosed with primary dyslipidaemia, presenting over the last 9 years were studied. Cascade screening was done for family members of the patients to detect dyslipidaemia in parents and siblings. All children were followed up 3 to 6 monthly for clinical and laboratory evaluation. Diet and drug therapy, initiated as appropriate, were modified as necessary.

Results:
Of nine children with primary dyslipidaemia, seen over the last 9 years, homozygous familial hypercholesterolaemia (HoFH) (n = 4/9), familial hypertriglyceridaemia (FHT) (n = 3/9), familial combined hyperlipidemia (FCH) (n = 1/9), mutation proven chylomicronaemia syndrome (n = 1/9) were the phenotypes seen. Multiple xanthomas (n = 4/9), recurrent pancreatitis (n = 2/9) and incidentally found biochemical abnormality (n = 3/9) were the chief presenting features. Medical nutrition therapy and lipid-lowering drugs, as appropriate, were instituted in all. Follow-up over 16 months (range 4 to 90 months) revealed no deaths and no new onset of symptoms. Atherosclerotic plaques in the carotid artery were seen in one child, who presented late, despite fair compliance to treatment. Interestingly, lipid levels decreased in all cases and were normalised in two.

Conclusion:
Primary dyslipidaemia when detected early and treated aggressively can improve short-term outcomes.
Adult Height in Indian Girls with Turner Syndrome Treated with Long-Term Growth Hormone Therapy — A Western India Tertiary Centre Experience
Authors: Khadilkar Vaman , Mondkar Shruti , Oza Chirantap , Gondhalekar Ketan , Khadilkar Anuradha 
Published: June 2023

Background and Objectives:
Owing to paucity of data on adult height in Indian girls with Turner syndrome treated with growth hormone (GH), this study was conducted to assess improvement in height following GH therapy and adult height achieved with long-term GH therapy in Indian girls with Turner syndrome and to assess relationship between achieved and predicted height.

Methodology:
Retrospective analysis was performed on 12 girls with karyotype-proven Turner syndrome, who had attained adult height following mean duration of GH therapy of 4.8 years (range: 2.7-7.6). Adult height predictions were performed using index of responsiveness (IOR) and Ranke’s prediction model.

Results:
Mean age at starting GH was 10.2 ± 1.9 years; Pubertal induction was between 11 and 15 years. Mean height gain was 29.3 ± 9.8 cm (range: 14–39.5) from onset of treatment to adult height. Significant improvement in height Z scores (IAP 2015 and Indian Turner reference data) following GH therapy (p = 0.002 and 0.012, respectively) was noted. Using Indian Turner reference data, the height Z score improved from pre-treatment 0.8 ± 0.8 to 2.0 ± 0.9 on stopping GH and adult height Z score of 1.3 ± 0.7. Using Ranke’s equation for prediction of near adult height, predicted and achieved adult height showed a strong positive correlation (Spearman correlation coefficient = 0.827, significant at 0.01 level).

Conclusion:
At a dose in the lower range (40-50 mcg/kg/day) of recommendation and duration of 5 years, Indian girls with Turner syndrome can achieve adult height within the healthy Indian reference range. Dose individualization based on IOR would help in optimizing GH dosage and would turn out to be economically sustainable without compromising on height outcomes.
Zoledronic Acid Treatment in Infants and Toddlers with Osteogenesis Imperfecta is Safe and Effective: A Tertiary Care Centre Experience
Authors: Kumar Angad , Saikia Uma K. , Bhuyan Ashok K. , Baro Abhamoni , Prasad Surendra G. 
Published: June 2023

Context:
Osteogenesis imperfecta (OI) is a genetic disorder of the extracellular matrix of bone characterized by low bone mass manifesting as frequent fractures, delayed motor development, pain, and impaired quality of life. The intravenous bisphosphonate, pamidronate is an established treatment for OI. Recently, zoledronic acid (ZA) has been used for the management of OI.

Aim:
To assess the efficacy and safety of ZA in children below five years of age with OI.

Settings and Design:
A hospital-based prospective observational study.

Methods and Material:
Patients with OI aged less than five years attending our centre were treated with intravenous ZA at a dose of 0.05 mg/kg every six months. Subjects were closely monitored for clinical and biochemical variables, adverse events, and new-onset fractures. The response to therapy was assessed by monitoring clinical variables including the degree of bony pains, number of fractures, height/length standard deviation score (SDS), and motor developmental milestones. All patients were analysed at baseline and at the end of two years for biochemical parameters and clinical severity score (CSS) as proposed by Aglan et al. with modifications.

Results:
After two years of treatment, OI patients showed a significant decline in the rate of fractures (p < 0.001), improvement in ambulation (p = 0.005), alleviation of pain (p < 0.001), and improvement in height SDS (p < 0.05). There was a significant improvement in CSS after two years of therapy. Apart from mild flu-like symptoms and mild asymptomatic hypocalcaemia immediately post-infusion, no other adverse effect was noted.

Conclusion:
ZA therapy in infants and children below five years of age with OI was effective and safe and a more convenient alternative to pamidronate.
An Observational Study on Response to Growth Hormone Therapy in Indian Patients of Short Stature with Special Emphasis on Biochemical Parameters and Bone Biomarkers
Authors: Roy Ritam , Hazra Avijit , Ghosh Sujoy 
Published: June 2023

Introduction:
There is a lack of Indian data on short stature treatment using recombinant human growth hormone (rhGH). We explored the effects of such treatment in eastern Indian patients, with emphasis on biochemical parameters and bone biomarkers in addition to basic anthropometry.

Methods:
Our descriptive study covered 50 short stature patients of varied aetiology attending endocrine outpatient department (OPD) of a tertiary care teaching hospital. Patients were followed up for 1 year after the index visit, and prospective data were reconciled with past medical records. A dose of rhGH used was 0.18–0.375 mg/kg as standard, starting dose mostly being 0.2 mg/kg. Dosing was adjusted if the physician judged the clinical outcome to be less favourable than expected. Anthropometric parameters (height, weight, body mass index (BMI) and skeletal age) were recorded clinically, and various biochemical parameters and bone biomarkers were estimated from blood.

Results:
Among 50 subjects, 60% had idiopathic growth hormone (GH) deficiency and 26% had Turner’s syndrome. The median age at treatment start was 10 years, and the median treatment duration was 25.5 months. The height increased more in the first year of therapy. In the last 6 months, the height velocity was approximately 0.5 cm/month. Although the weight increased significantly, the increment slowed down in the last 6 months. Both remained less than age- and gender-matched references throughout. The skeletal age was on average 2 years behind chronological age (CA)—being 8.7, 9.6 and 11.3 years, respectively, at therapy start, after one year and at study end. Fasting blood glucose (FBG), total cholesterol and calcium level changes were not statistically significant. Serum cortisol and phosphate showed a modest but statistically significant rise, while thyroid-stimulating hormone (TSH) level declined. Insulin-like growth factor 1 (IGF-1) increase was relatively pronounced. Among bone biomarkers, a decrease in CTx and an increase in vitamin D were significant. Dual-energy X-ray absorptiometry (DEXA) data indicated that bone mineral density was less than that of age-matched controls despite treatment. The therapy was well tolerated.

Conclusions:
rhGH treatment leads to significant improvement in anthropometry in Indian children comparable with Western data. Bone biomarker changes indicate decreased bone resorption and increased bone formation although bone mineral density still lags behind age-matched controls.
One-Year follow-up of 50 Rural Underprivileged Type 1 Diabetes Children on Insulin Pump Therapy: Breaking Socio-Economic Barriers in Diabetes Technologies
Authors: Swaminathan Krishnan 
Published: June 2023

Aims:
To audit the feasibility and clinical outcomes of fifty rural underprivileged children with Type 1 diabetes on insulin pump therapy for a one-year duration.

Material and Methods:
All patients were audited from the Type 1 database of Madhuram Diabetes and Thyroid Centre (Unit of Idhayangal Charitable Trust www.idhayangal.org, NGO focussed on Type 1 diabetes from poor socio-economic strata). Below Poverty Line (BPL) was defined as any family earning less than Rs 2 lacs per annum. All children acted as their own controls managed on MDI for at least six months before pump start. Data were tabulated in Microsoft Excel and analysed.

Results:
There were significant reductions in glycosylated haemoglobin at 6 months and one-year of insulin pump therapy compared to baseline pre-pump MDI values. In addition, significant reductions in diabetic ketoacidosis and severe hypoglycaemia admissions were seen.

Conclusion:
Insulin pump therapy without prejudice on indicated well-selected rural underprivileged children with Type 1 diabetes leads to clinically meaningful outcomes. NGO-Private-Industry partnership is vital to expand access of modern diabetes technologies to reach the most underprivileged.
A Pilot Study to Assess Effect of Metformin Therapy on Prevention of Double Diabetes in Indian Adolescents with Type-1 Diabetes
Authors: Oza Chirantap , Mondkar Shruti , Shah Nikhil , More Chidvilas , Khadilkar Vaman , Khadilkar Anuradha 
Published: June 2023

Introduction:
Increased prevalence of metabolic syndrome in Indian adolescents owing to the obesity epidemic leads to double diabetes (DD), which is associated with an increased risk of complications in type-1 diabetes (T1D). Metformin may be a useful intervention for the prevention and treatment of insulin resistance in T1D. We conducted this pilot randomized controlled trial with the objective of investigating the effect of metformin on insulin sensitivity in Indian adolescents with T1D.

Method:
This pilot randomized controlled trial was performed on 59 participants with T1D aged 10–19 years distributed uniformly by gender and puberty across two groups with a 3-month intervention period. The intervention group received metformin (weight less than 60 kg received 500 mg twice daily and more than 60 kg received 1 gm twice daily) and non-metformin group received standard of care for diabetes. Anthropometric, clinical details, biochemistry and insulin sensitivity indices (ISI) were evaluated using standard protocols at baseline and endline.

Result:
22.2% of subjects from non-metformin group and 12.5% from metformin group were at the risk of the development of DD. The odds ratio and relative risk for the development of DD in non-metformin subjects were 2.0 and 1.4, respectively, as compared to participants in metformin group. The mean improvement in ISI ranged from 1.4% to 4.6% in participants on metformin as opposed to deterioration of -2% to -14.1% in non-metformin group. On performing the paired sample t-test, the reduction in ISI in non-metformin group was significant.

Conclusion:
Metformin may prevent deterioration in insulin sensitivity in Indian adolescents with T1D.
Pulmonary artery diameter correlates with echocardiographic parameters of right ventricular dysfunction in patients with acute pulmonary embolism
Authors: O’Corragain Oisin , Alashram Rami , Millio Gregory , Vanchiere Catherine , Hwang John Hojoon , Kumaran Maruti , Dass Chandra , Zhao Huaqing , Panero Joseph , Lakhter Vlad , Gupta Rohit , Bashir Riyaz , Cohen Gary , Jimenez David , Criner Gerard , Rali Parth 
Published: June 2023

ABSTRACT

Introduction:
Right ventricular dysfunction (RVD) is a key component in the process of risk stratification in patients with acute pulmonary embolism (PE). Echocardiography remains the gold standard for RVD assessment, however, measures of RVD may be seen on CTPA imaging, including increased pulmonary artery diameter (PAD). The aim of our study was to evaluate the association between PAD and echocardiographic parameters of RVD in patients with acute PE.

Methods:
Retrospective analysis of patients diagnosed with acute PE was conducted at large academic center with an established pulmonary embolism response team (PERT). Patients with available clinical, imaging, and echocardiographic data were included. PAD was compared to echocardiographic markers of RVD. Statistical analysis was performed using the Student’s t test, Chi-square test, or one-way analysis of variance (ANOVA); P < 0.05 was considered statistically significant.

Results:
270 patients with acute PE were identified. Patients with a PAD >30 mm measured on CTPA had higher rates of RV dilation (73.1% vs 48.7%, P < 0.005), RV systolic dysfunction (65.4% vs 43.7%, P < 0.005), and RVSP >30 mmHg (90.2% vs 68%, P = 0.004), but not TAPSE ≤1.6 cm (39.1% vs 26.1%, P = 0.086). A weak increasing linear relationship between PAD and RVSP was noted (r = 0.379, P = 0.001).

Conclusions:
Increased PAD in patients with acute PE was significantly associated with echocardiographic markers of RVD. Increased PAD on CTPA in acute PE can serve as a rapid prognostic tool and assist with PE risk stratification at the time of diagnosis, allowing rapid mobilization of a PERT team and appropriate resource utilization.
Guidelines for endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA): Joint Indian Chest Society (ICS)/Indian Association for Bronchology (IAB) recommendations
Authors: Mohan Anant , Madan Karan , Hadda Vijay , Mittal Saurabh , Suri Tejas , Shekh Irfan , Guleria Randeep , Khader Abdul , Chhajed Prashant , Christopher Devasahayam J. , Swarnakar Rajesh ,   for the “EBUS Guidelines Working Group” Working group Members (in alphabetical order by surname), Agarwal Ritesh , Aggarwal Ashutosh Nath , Aggarwal Shubham , Agrawal Gyanendra , Ayub Irfan Ismail , Bai Muniza , Baldwa Bhvya , Chauhan Abhishek , Chawla Rakesh , Chopra Manu , Choudhry Dhruva , Dhar Raja , Dhooria Sahajal , Garg Rakesh , Goel Ayush , Goel Manoj , Goyal Rajiv , Gupta Nishkarsh , Manjunath BG , Iyer Hariharan , Jain Deepali , Khan Ajmal , Kumar Raj , Koul Parvaiz A. , Lall Ajay , Arunachalam M. , Madan Neha K. , Mehta Ravindra , Loganathan N , Nath Alok , Nangia Vivek , Nene Amita , Patel Dharmesh , Pattabhiraman V. R. , Raja Arun , Rajesh Benin , Rangarajan Amith , Rathi Vidushi , Sehgal Inderpaul Singh , Shankar Sujay H. , Sindhwani Girish , Singh Pawan K. , Srinivasan Arjun , Talwar Deepak , Thangakunam Balamugesh , Tiwari Pawan , Tyagi Rahul , Chandra Naren V. , Sharada V. , Vadala Rohit , Venkatnarayan Kavitha 
Published: June 2023

ABSTRACT
Over the past decade, endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has become an indispensable tool in the diagnostic armamentarium of the pulmonologist. As the expertise with EBUS-TBNA has evolved and several innovations have occurred, the indications for its use have expanded. However, several aspects of EBUS-TBNA are still not standardized. Hence, evidence-based guidelines are needed to optimize the diagnostic yield and safety of EBUS-TBNA. For this purpose, a working group of experts from India was constituted. A detailed and systematic search was performed to extract relevant literature pertaining to various aspects of EBUS-TBNA. The modified GRADE system was used for evaluating the level of evidence and assigning the strength of recommendations. The final recommendations were framed with the consensus of the working group after several rounds of online discussions and a two-day in-person meeting. These guidelines provide evidence-based recommendations encompassing indications of EBUS-TBNA, pre-procedure evaluation, sedation and anesthesia, technical and procedural aspects, sample processing, EBUS-TBNA in special situations, and training for EBUS-TBNA.
An unusual, life-threatening complication of EBUS-TBNA: Pneumoperitoneum
Authors: Söyler Yasemin , Uzel Şener Melahat , Öztürk Ayperi 
Published: June 2023

ABSTRACT
Endobronchial ultrasound-guided with transbronchial needle aspiration (EBUS-TBNA) is a safe procedure. We present an unusual life-threatening complication after EBUS-TBNA in a 43-year-old female. She underwent EBUS-TBNA for enlarged lymph nodes evaluation. After EBUS-TBNA, a progressively worsening abdominal distension was observed. In computed tomography, subcutaneous emphysema, bilateral pneumothorax, pneumomediastinum and pneumoperitoneum were detected. This complication was successfully treated with chest tube insertion and bedside abdominal decompression. Even though EBUS-TBNA is considered to bear a low risk, the possibility of complication occurrence must be taken into account and clinicians must be more cautious about pulmonary barotrauma, especially when EBUS-TBNA is performed.
Acute respiratory distress syndrome following breast augmentation managed by delayed veno-venous extracorporeal membrane oxygenation
Authors: Pirompanich Pattarin , Saisirivechakun Pannarat , Nithisatienchai Chichaya , Homvises Boonlawat , Sapankaew Tunlanut , Udomlap Natthawarang , Warnnissorn Naree 
Published: June 2023

ABSTRACT
The initiation of veno-venous extracorporeal membrane oxygenation (VV-ECMO) has been opposed in late-phase acute respiratory distress syndrome (ARDS) due to an increase in mortality. Herewith an individual case of a 20-year-old female who survived severe ARDS after breast augmentation is reported, whose delayed transfer to our tertiary referral center led to a late initiation of VV-ECMO and multiple mechanical ventilation-associated complications. Nonetheless, her VV-ECMO was decannulated after 45 days of ARDS onset, considering an awake ECMO strategy possibly contributing to her positive outcome. We also provided spirometry results and chest radiography findings over the three years of follow-up. Intensive care specialists need to consider the potential use of ECMO in late-phase ARDS with selected patients.
Using Digital Technologies to Strengthen Routine Immunization Data in Enugu, Nigeria: A Qualitative Study of Stakeholders’ Perceptions of Open Data Kit
Authors: Odii A , Ezema GU , Ugwu GO , Bisi-Onyemaechi A , Enebe NO , Onyishi CN , Ugwu JI , Okeke C , Uzochukwu BSC , Onwujekwe O 
Published: June 2023

ABSTRACT

Background:
Stakeholders have had a long-standing concern about the quality of Routine Immunisation (RI) data in Nigeria. Digital technology tools like Open Data Kit (ODK) can address this challenge by reducing errors and discrepancies in RI data. However, despite its use in various health promotion programs, ODK is yet to be implemented for RI data capture and transmission.

Aim:
The purpose of this study is to explore stakeholders’ views regarding the use of ODK for RI data capture and transmission.

Methods:
The study was conducted in Enugu State, using a qualitative research approach. Stakeholders in RI from Primary health facilities, local government quarters and Enugu state primary health care development agencies (ENS-PHCDA) were purposefully selected and interviewed. The analyses followed a thematic approach.

Results:
The study found that the current method of RI data capture is challenged by delays, incomplete and inaccurate reporting. Stakeholders had a positive reception of a switch to ODK for RI data capture and transmission because they think it can address the challenges associated with the current method, which is partly paper-based. The desire to switch to ODK was based on the belief that it guarantees data safety, timely submission, and reduced error or inaccurate data; these views were informed by previous experience with ODK in other health promotion programs. Stakeholders also perceived that to effectively implement ODK for RI data capture and transmission, training must be properly organized and resources put in place.

Conclusion:
The study provides new knowledge to pave the way for pilot implementation and integration of ODK for RI data capture and transmission in Enugu State, Nigeria.
Perspectives of Immunization Data users on Quality and use of Immunization Data in the Federal Capital Territory, Nigeria: A Qualitative Study
Authors: Tor S , Onyeneho N , Okolie N , Aronu NI , Atumah O , Okwuosa LN , Igwe I , Ebenezer OT , Ezenwaka U , Mbachu C , Onwujekwe O 
Published: June 2023

ABSTRACT

Background:
Despite the benefits of immunization in saving the life of children, about one in every five children in the African region did not receive an initial dose of Diphtheria, Pertussis, and Tetanus. This has been attributed to the inefficient use of data in planning immunization service delivery in many African countries, including Nigeria.

Aim:
To explore barriers to efficient use of good quality data in planning immunization service delivery in Nigeria.

Methods:
A total of 31 in-depth interviews were conducted among key stakeholders in immunization data in the immunization program of the Federal Capital Territory (FCT), Nigeria. Questions were asked on their perceived use of immunization data; archiving of immunization data; major challenges in keeping and using immunization data among others. Thematic content analysis was performed on the data using the Atlas.ti software.

Results:
There was a consensus on the importance of data for efficient delivery of immunization services. However, oftentimes the immunization data were not used because of the poor quality and late submission attributed to the poor tools, poor facilities, and data capture materials. Some of the staff were not well trained and when trained, the staff rotation did not allow them to stay on the job for a long time. There was also the predominance of private for-profit health facilities that rarely submit reports and data.

Conclusion:
Several capacity-related factors affect the efficient use of immunization data in the FCT immunization program. Some of these include the unavailability of the right tools and facilities for data generation, storage, and use. Inadequate training of the staff was also mentioned.