bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria
Authors: Rahimzadeh Arian , Khosravi Teymoor , Motallebi Farzaneh , Al Sudani Zainab M. , Vaghefi Fatemeh , Kowsari Ali , Oladnabi Morteza 
Published: August 2024

Abstract

Background:
The PAH gene mutations have been linked to the development of phenylketonuria (PKU), which is recognized as the most common inborn metabolic disorder, and is caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme. The Iranian population, known for its diversity and high consanguinity, offers a valuable sample for studying autosomal recessive disorders. Our study investigated three unrelated families with PKU from Iran, utilizing clinical, laboratory, and computational approaches.

Materials and Methods:
We performed direct PCR sequencing for 13 exons of the PAH gene on three Iranian patients who were diagnosed with PKU. Then, Sanger sequencing confirmed the segregation of the mutations from parents to probands. Pathogenicity predictor tools, including ACMG, CADD, SIFT, Polyphen-2, and Mutation Taster, were utilized to analyze the identified genetic variants. The three-dimensional structure of the mutant forms of the protein was predicted. We also analyzed the protein–protein interactions of PAH using the STRING database.

Results:
All three patients exhibited rare compound heterozygosity rearrangements in the PAH gene (NM_000277.3). These included three missense variants: [c.533A>G/c.1222C>T], [c.526C>T/c.1222C>T], and [c.533A> / c.526C>T].

Conclusion:
This study adds to the body of evidence establishing the association between PAH mutations and the development of PKU. We speculated that the conjunction of a high consanguinity rate in populations such as Iran, coupled with the founder effect, can give rise to atypical genetic profiles, as observed in the rearrangement of compound heterozygosity in this study Moreover, our research underscores the significance of genetic testing in the precise diagnosis of individuals affected by inborn errors of metabolism.
Prophylactic Cyproheptadine to Control Paroxysmal Hemicrania Attacks: A Preliminary Investigation
Authors: Nasiri Jafar , Zolfaghari Mohammad R. , Yaghini Omid , Ghazavi Khorasgani Mohammad R. , Hosseini Moshkenani Neda 
Published: August 2024

Abstract

Background:
Paroxysmal hemicrania (PH) is a severe short-lasting headache usually localized around the eye. It might occur in conjunction with ipsilateral autonomic manifestations of trigeminal nerve stimulation. PH responds well to indomethacin treatment; however, considering the adverse effects of indomethacin, its long-term use is a matter of question and investigations about other prophylactic medications are going on, but they are inconclusive. The current study aims to investigate the efficacy of prophylactic use of cyproheptadine to control PH symptoms.

Materials and Methods:
The current clinical trial was conducted on 20 children diagnosed with PH undergoing prophylactic treatment with cyproheptadine syrup at a dosage of 0.2–0.4 mg/kg twice daily for a period of 3 months. The duration, frequency, and severity of headaches were assessed at baseline and then monthly for 3 months.

Results:
Significantly shorter duration, less frequency, and less severity of headaches were observed in the postintervention assessments of the patients (P < 0.001). The effect size analysis showed that the greatest effect of the treatment was on the intensity of the headache (effect size: 0.866) and the least effect was on duration of the headache (effect size: 0.775). Drowsiness (5%) and increased appetite (30%) were the only adverse effects of treatment with cyproheptadine.

Conclusion:
Findings of this study showed that short-term prophylactic cyproheptadine in divided doses of 0.2–0.4 mg/kg could appropriately improve PH in terms of frequency, duration, and the intensity of the attacks. Nevertheless, further investigations are strongly recommended.
Documents to procure gamma irradiation chamber and license for operation in blood center
Authors: Luhar Rakesh Kumar , Maheshwari Kishore , Shah Ripal J. , Harimoorthy V. 
Published: August 2024

Abstract:
Graft-versus-host disease is a critical posttransplant complication, particularly affecting individuals with compromised immune systems. Patients undergoing bone marrow transplants, neonates receiving intrauterine transfusions, and those recipients of blood from first-degree relatives are vulnerable to this condition. The significance of efficient lymphocyte inactivation has driven the widespread adoption of Gamma Irradiation Chambers (GICs) utilizing radiation sources such as Cesium-137 (Cs-137) or Cobalt-60 (Co-60). However, the effective operation of these chambers is contingent on navigating a complex regulatory landscape (Cs-137 or Co-60 is commonly used as the source of gamma rays. The usual dose is 25 Gray [Gy] to 35 Gy [1 Gy = 100 rads], this dosage inactivates 85%–95% of lymphocytes in the blood components without any adverse effect on other cellular components of the blood). GIC unit mainly houses either Co-60 or Cs-137as radiation sources (model no BI-2000, BI-5000 mfr. by Board of Radiation and Isotope Technology with typical radioactivity ranging from tens to hundreds of terabecquerel. These units are also used in research institutions, hospitals, blood center, etc. A review of legal, regulatory, and policy aspects of the operation of GIC in India regarding its issues, challenges, and opportunities. We aimed to prepare a standard guidance document for GIC for a smooth process of the Atomic Energy Regulatory Board (AERB) licensing and equipment purchasing. The present article was written based on the experience of applying for GIC with AERB and recurrent support extended to colleagues in the fraternity. The documents prepared for licensing and various procedural steps involved in the same are included. Many documents and many days are required from procurement to the receipt of the license for operation GIC. At the same time, with very few user institutes and less number of experienced people in the country, it becomes difficult to find a proper method to approach the national government body. If blood center/radiological safety officer are properly trained as per the guidelines available, this can reduce man-days and facilitate the earliest operations.
Autoimmune hemolytic anemia with Donath–Landsteiner antibody: A rare case report
Authors: Chowdhry Mohit , Gupta Aashna , Jain Rashmi , Sharma Ankita 
Published: August 2024

Abstract:
Paroxysmal cold hemoglobinuria (PCH) is a rare autoimmune hemolytic anemia characterized by the abrupt onset of hemoglobinuria and anemia, typically following exposure to cold temperatures. The pathogenesis of PCH is primarily associated with the presence of a unique autoantibody known as the Donath–Landsteiner antibody, a biphasic hemolysin (immunoglobulin G) with specificity for P blood group antigens. This rare clinical entity can manifest at any age; however, in children, it typically follows a viral upper respiratory tract infection or immunization. We hereby report a rare case of PCH in a 3-year-old boy who presented at our hospital with severe anemia along with liver and renal dysfunction.
A rare case of hemolytic disease-associated thrombocytopenia mimicking alloimmune thrombocytopenia: Salvaging a precious baby
Authors: Kaur Pandeep , Bava Davood , Kumar Satish , Setya Divya , Gupta Akarshan , Chatterjee Amit Kumar 
Published: August 2024

Abstract:
Thrombocytopenia associated with hemolytic disease of fetus and newborn (HDFN) is usually mild-to-moderate severity. Neonatal alloimmune thrombocytopenia (NAIT) is one of the leading causes of severe thrombocytopenia in neonates. We describe a rare case of very severe thrombocytopenia (5 g/L) with bleeding manifestations associated with HDFN mimicking NAIT. The baby was a preterm female, born to a 34-year-old multiparous mother with a bad obstetric history and multiple alloantibodies (anti-D, anti-C, anti-E, and anti-Jka). She was managed with phototherapy, exchange transfusion with phenotype-matched packed red blood cells, random donor platelets and intravenous immunoglobulin as platelet crossmatching could not provide compatible platelets. NAIT was ruled out with human platelet antigen (HPA) genotyping of the baby, the mother, and the father. It was concluded that the very severe thrombocytopenia might be due to HDFN after ruling out the other causes. HDFN can rarely cause very severe thrombocytopenia. However, when a newborn presents with severe/very severe thrombocytopenia, NAIT is to be ruled out with HPA genotyping, even in resource-limited settings, to plan out subsequent pregnancies.
Clinicoepidemiological Pattern and Quality of Life Indices among Adult Males with Acne Vulgaris: A Hospital-based Cross-sectional Study
Authors: Reddy Ananya B. , Shafi Fathima , Pinto Malcolm , Hegde Spandana Prakash , Asfiya Amina 
Published: August 2024

Background and Aim:
Adults with acne have been found to have a higher incidence of anxiety, depression, and suicidal ideation as compared to the general population. To the best of our knowledge, there is a dearth of studies assessing the quality of life among males with acne. This study explores the clinical patterns of acne with special emphasis on quality of life among adult males with acne vulgaris.

Materials and Methods:
All male patients visiting the dermatology outpatient department with acne were included after obtaining informed consent. Demographic data were recorded. Clinical assessment was done based on Global Acne Grading System (GAGS) and qualitative global acne scar grading. Assessment of quality of life was done using Dermatological Life Quality Index (DLQI) and Cardiff Acne Disability Index (CADI) in each patient.

Results:
Among 322 patients recruited in this study, 293 patients (91.3%) had mild acne, followed by 29 patients (8.7%) who had moderate acne as per GAGS score. The mean DLQI and CADI scores were 5.07 ± 5.0 and 4.0 ± 2.8, respectively. GAGS was found to have a significant correlation with CADI but not with DLQI.

Conclusion:
CADI score is an important tool which can enable dermatologists to assess the psychosocial burden of the disease in men with acne. This can enable the development of a comprehensive management plan which will enable better treatment and better quality of life in men with acne.
An Educational Intervention on Situational Awareness and Understanding of Menstrual Hygiene, Knowledge, Taboo, and Its Practices among School-going Adolescent Girls in Rural Areas of Belagavi, Karnataka
Authors: Khan Nagma , Mahishale Arati 
Published: August 2024

Background and Aim:
Menstruation is a normal physiological event for teenage girls who reach reproductive age. Superstitions and social taboos nevertheless surround it. An inadequate understanding of the menstrual cycle might lead to risky hygiene practices. Despite such clinical and educational impacts, menstruation-related information and hygienic behaviors are not adequately addressed in India, particularly among adolescent girls. Hence, the main objective of this study was to enhance adolescent schoolgirls’ knowledge and usage of menstrual hygiene management in the Belagavi District through educational intervention.

Materials and Methods:
Four eighty-four adolescent girls aged between 12 and 19 years were randomly assigned into the intervention group (IG group) and control group (CG group) (n = 242 per group). Both groups received one session of an educational intervention. Before and after the intervention, they were requested to complete outcome assessments using the Menstrual Knowledge, Sociocultural Restrictions and Barriers Questionnaire and Menstrual Practice Needs Scale-36.

Results:
The result of the study has revealed statistical significance. The IG group demonstrated an extremely significant change in both outcome measures’ preintervention and postintervention scores (P < 0.001). In comparison to the CG, the interventional group had superior postinterventional knowledge and hygiene practices, according to the between-group analysis (P < 0.001).

Conclusion:
According to the current research findings, knowledge levels significantly increased in the IG (88.8%) and the CG (28.45%). Adolescent girls’ practice scores also revealed a significant rise in the IG of 44.6% and no change in the CG. Thus, the educational program’s goals of enhancing menstrual hygiene understanding and practice were achieved effectively.
Troubled Nurse: The Physical and Psycho-emotional Effects of Diabetes Care on Nurses
Authors: Olorunfemi Olaolorunpo , Bamidele Oreoluwa Oluwatomiwa 
Published: August 2024

ABSTRACT

Background:
Diabetes care imposes substantial physical and psycho-emotional demands on nurses, influencing both their personal well-being and professional efficacy. The relentless nature of managing chronic illness, coupled with the emotional toll of patient care, often leads to increased levels of stress, fatigue, and burnout among nurses. This review article aims to assess the physical and psycho-emotional effects of diabetes care on nurses.

Methods:
From 2018 to 2024, the literature on relevant issues was obtained from previously published scholars on PubMed, PsycINFO, and Google Scholar

Results:
This review shows that nurses caring for patients with diabetes frequently experience stress, weariness, back pain, and musculoskeletal difficulties due to the chronic nature of the disease and the high demands of patient care.

Conclusion:
These problems necessitate focused measures to improve nurses’ health, such as improving workplace circumstances and providing emotional support, which can reduce the negative impacts and encourage better care for both patients and nurses.
Clinical Profile and Molecular Genetic Analysis of Prader - Willi Syndrome
Authors: Sridhar Subbiah , Nazirudeen Roshan , Ramasamy Suresh , Natarajan Vasanthiy , Thiagarajan Kumanan , Karthika Lakshmanan Nivethitha 
Published: August 2024

Aim:
The prevalence of childhood and adolescent obesity is increasing worldwide as well as in India. Prader–-Willi syndrome (PWS) is one of the most common causes of syndromic obesity with varied clinical manifestations across different lifespan. Herewith, we describe clinical and molecular characteristics of eight PWS who were diagnosed in an obesity clinic of tertiary care hospital.

Materials and Methods:
Clinically suspected cases of PWS were screened between January 2014 and January 2022. Detailed history and clinical examination were done to look for typical features of PWS like characteristic facial appearance, short stature, obesity, hyperphagia, delayed puberty or hypogonadism, diabetes mellitus, developmental delay, cognitive dysfunction, learning disabilities or abnormal behavior. All were evaluated, with 75 g oral glucose tolerance tests (GTT), HbA1c, Free T4, TSH, LH, FSH, testosterone, and growth hormone level. Intelligent quotient (IQ) of each patient was assessed by a psychiatrist using Binet–Kamat test. Molecular confirmation of clinically suspected PWS was done by either Methylation-specific polymerase chain reaction (MS-PCR) or Fluorescence in situ Hybridization (FISH) methods.

Results:
Based on clinical and molecular characteristics, eight were diagnosed as PWS. Except one, all were male with characteristic facies, mean age of study cohort was 12 years and mean BMI of 44.58. Obesity, short stature, hyperphagia, hypotonia, and mild to moderate mental retardation were noted in entire (100%) PWS study population. All male PWS patients had cryptorchidism, which was bilateral in six patients and unilateral (right undescended testes) in one. Apart from obesity, short stature, other endocrine associations noted were diabetes mellitus in 50% and subclinical hypothyroidism in 37% of PWS. Molecular characteristics of PWS were confirmed by Methylation-specific PCR in seven and by FISH method in one.

Conclusion:
Prader–Willi syndrome should be kept in mind in case of childhood or adolescent obesity with short stature, hypotonia, cryptorchidism, and developmental delay or cognitive dysfunction. Judicious use of molecular diagnostic testing should be made in all clinically suspected cases. Early diagnosis and appropriate management of this complex disorder by a multidisciplinary team will improve the quality of life and treatment outcome.
Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam
Authors: Nagarajaiah Praveen , Bhuyan Ashok K. , Baro Abhamoni , Saikia Uma K. 
Published: August 2024

Abstract

Introduction:
Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignment at birth.

Methods:
This retrospective study included the records of people with DSD presenting to a tertiary centre over 10 years. The age at presentation, sex assignment, gender identity, degree of ambiguity, pertinent hormonal and radiological investigations were noted. Descriptive statistics were used for analysis.

Results:
The age of presentation varied widely, with peaks during infancy and puberty. The most prevalent DSD type was 46, XY DSD (61.2%), followed by 46, XX DSD (19.7%) and sex chromosome DSD (19.1%). Among people with 46, XY DSD, androgen biosynthesis disorders were dominant, particularly 5-a reductase 2 deficiency (46.7%). Among 46, XX DSDs, the most common subtype was androgen excess disorders (51.7%) comprising 21a-hydroxylase deficiency (48,3%) and 11β-hydroxylase deficiency (3.4%). Turner syndrome was most prevalent among sex chromosome DSD (71.4%) with others being Klinefelter syndrome, 45, XO/46, XY mixed gonadal dysgenesis and 46, XX/46, XY chimerism. The degree of ambiguity was variable depending on the type of DSD and similarly, sex assignment at birth was influenced by the level of ambiguity.

Conclusion:
The study underscores the significance of comprehensive approaches for DSD diagnosis and management, especially in regions with limited resources. The insights gained from this clinical study offer valuable understanding and aid in addressing the complexities associated with these conditions.
Botulinum toxin A as a treatment modality for acute acquired comitant esotropia – An Indian perspective
Authors: Badakere Akshay , Badrinath Vibha , Dhillon Hennaav Kaur , Valliappan Abinaya , Natarajan Viswanathan , Agarkar Sumita 
Published: August 2024

Purpose:
To analyze the outcomes of botulinum toxin A injection in acute acquired comitant esotropia (AACE).

Methods:
This is a retrospective study that included cases diagnosed as AACE between January 2022 and February 2023. Patients who were treated with Botox and completed a minimum 3 months follow-up were included in the study. All the patients underwent a complete ophthalmic, orthoptic examination and neuroimaging. The effects of age, onset of esotropia, screen time, deviation pre injection, mode of injection (transconjunctival/ open sky) and whether injection was administered in one/both eyes on successful outcome were analysed.

Results:
Twenty-seven patients (20 male, seven female) were included in the study. The median age was 10 years. The median deviation for distance and near preinjection was 35 and 40 prism diopters, respectively. Complete resolution of symptoms was noted in 18 patients (66.6%). Four patients needed prisms, two required repeat injections, and one each needed surgery and divergence therapy. Six patients developed ptosis. None of the risk factors seemed to affect outcomes.

Conclusion:
Botulinum toxin injected into the medial rectus is a safe and viable option for AACE. Preinjection counseling about ptosis, recurrence needing prisms, reinjection, or surgery is important.
A case of coronary dissection complicating intravascular lithotripsy
Authors: Natarajan Deepak 
Published: August 2024

Abstract
A middle-aged male suffering from diabetes developed severe coronary artery dissection soon after 40 pulses of intravascular lithotripsy (IVL) with a 2.5 mm × 12 mm balloon inflated at 4–6 atmospheres. The patient developed chest discomfort accompanied by bradycardia. The dissection was successfully promptly treated with the insertion of a 2.75 mm × 18 mm everolimus-eluting stent. Coronary dissection following IVL, although uncommon, is not rare, and therefore, the operator should look out for this complication.
Primary testicular lymphoma: A case report
Authors: Roy Sharmistha , Soni Tej Prakash , Sharma Upendra , Sharma Anjali 
Published: August 2024

ABSTRACT
Primary testicular lymphoma is a rare and aggressive form of extranodal non-Hodgkin lymphoma. It has a predilection for relapse at sanctuary sites such as the contralateral testis and central nervous system. Herein, we present a case of primary testicular lymphoma in a 62-year-old man.
Validation of the Scrub Typhus Encephalitis Assessment Tool for the Management of Acute Encephalitis Syndrome
Authors: Rath Rama Shankar , Abdulkader Rizwan S. , Srivastava Neha , Deval Hirawati , Gupta Urmila , Sharma Bhoopendra , Mittal Mahim , Singh Vijay , Kumar Manish , Kharya Pradip , Gupta Nivedita , Kant Rajni , Murhekar Manoj , Mittal Mahima 
Published: August 2024

Introduction:
Acute encephalitis syndrome (AES) is one of the important causes of mortality among children in India. Active management of the cases, followed by addressing the cause of AES, is the key strategy for preventing mortality. Lack of laboratory facility and difficulty of sampling blood and cerebrospinal fluid (CSF) for assessing causes is one of the important barriers to early initiation of treatment. The main objective of the study is to validate the Scrub Typhus Encephalitis Assessment Tool (SEAT) for the management of AES.

Methods:
The study is a continuation of a study conducted in a tertiary care hospital in Eastern Uttar Pradesh. A machine learning (LightGBM) model was built to predict the probability of scrub typhus diagnosis among patients with acute encephalitis. Three models were built: one with sociodemographic characters, the second with Model 1 variables and blood parameters, and the third with Model 2 variables and CSF parameters.

Results:
The sensitivity of diagnosing the scrub typhus case was 71%, 77.5%, and 83% in Model 1, Model 2, and Model 3, respectively, and specificity was 61.5%, 75.5%, and 76.3%, respectively, in the models. In Model 1 fever duration, in Models 2 and 3, neutrophil/lymphocyte ratio was the most important predictor for differentiating the scrub and nonscrub cases.

Conclusion:
With the available sensitivity and specificity of the tool, the SEAT can be a valuable tool for the prediction of scrub typhus as a cause of AES cases in remote areas.