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Coffin-Siris Syndrome Type 1 with ARID1B Mutation: A Case Report of an 8-Year-Old Female with Seizure
Full text linkBackground: Coffin-Siris Syndrome (CSS) is a rare genetic disorder characterized by developmental delays, distinctive facial features, and digital abnormalities. Mutations in the ARID1B gene account for the majority of genetically confirmed cases.
Case Presentation: We report an 8-year-old female who presented with seizure-like activity and was previously diagnosed with global developmental delay. Clinical examination revealed distinctive facial features including bushy eyebrows, depressed nasal bridge, thick nasal alae, and everted thick lips. Anthropometric assessment showed significant growth deficiencies with weight and BMI below -3SD, and height at -2SD. Developmental evaluation demonstrated severe delays across all domains, with developmental quotients ranging from 15% for gross motor skills to 40% for social milestones. Genetic testing confirmed a heterozygous mutation in the ARID1B gene (OM*614556), establishing the diagnosis of Coffin-Siris syndrome type 1 (OMIM#135900). Neurological workup including MRI and EEG yielded normal results despite the seizure presentation.
Discussion: This case exemplifies both typical and atypical features of CSS, highlighting the clinical heterogeneity of the syndrome even within genetically confirmed cases. While the patient demonstrated the characteristic facial phenotype and severe developmental delays consistent with CSS, she notably lacked several common features including fifth digit hypoplasia and hypertrichosis. The seizure episode at age 8 aligns with the known neurological manifestations of CSS, affecting approximately 50% of patients.
Conclusion: This case reinforces the importance of genetic testing in the diagnosis of CSS, particularly when the clinical presentation is incomplete. It emphasizes the need for multidisciplinary management including developmental interventions, neurological monitoring, and nutritional support. Long-term follow-up is essential to address emerging complications and optimize developmental outcomes
Comparative Study of TB Treatment Outcomes Among Non-Diabetics, Controlled Diabetics, and Uncontrolled Diabetic Patients
Full text linkObjectives: This study was done to compare the clinical characteristics, bacteriological pattern and treatment outcomes, among non-diabetics, controlled and uncontrolled diabetics. Theoretical Framework: TB continues to be a major global public health concern, with millions of cases reported annually. While there are treatment regimens with high cure rates, achieving optimal outcomes can be significantly challenged by the presence of co-morbidities like DM. Methods: This study was an observational type of analytical study conducted in the Department of Respiratory Medicine, SNMC Agra. Patients who were sputum positive and registered under NTEP were included in this study, PTB patients were screened for DM using Fasting and 2 hour Post Prandial Blood glucose test and Hba1c. Results and Discussion: Patients with DM both controlled and uncontrolled experienced more severe clinical manifestations, delayed sputum conversion, and poorer treatment outcomes as compared to non-diabetics . There were higher cases of drug resistance, treatment failure, loss to follow-up cases and mortality in uncontrolled diabetics while best Treatment outcomes were observed in Non-Diabetics. Research Implications: Given the growing epidemic of DM worldwide it is necessary to add DM prevention and control strategies to TB control programmes during the course of TB treatment, Proper management of DM with improved glucose control and regular monitoring can affect the treatment outcomes in TB patients, as evidenced in our study. Originality: By meticulously evaluating treatment success rates, and exploring potential influencing factors, this study aims to establish a clearer picture of the link between diabetes control and TB treatment
Femoral Neck System (FNS): A Biomechanical Strong Solution for Stable Fixation in Basi cervical Neck of Femur Fractures
Full text linkBackground: Due to their rarity and probable instability, basicervical femoral neck fractures whose frequency ranges from 1.8 to 7.6% present difficulties and have higher repair failure rates than intertrochanteric fractures. Even though the fracture site is extracapsular, surgical treatment is still difficult. Objectives: This study was done for assessment of femoral neck system (FNS) as a biomechanical strong solution for stable fixation in basicervical neck of femur fractures. Methods: The cross-sectional Observational study was conducted in the Department of Orthopedic, National Institute of Traumatology and Orthopedic Rehabilitation (NITOR) from June 2022 to May 2023. A total of 30 patients of both sexes were included in the study. Data was collected over a period of 12 months and analyzed by appropriate computer based programmed software Statistical Package for the Social Sciences (SPSS), version 24. Results: In this study, most of the respondents 18 (60.7%) lies between 51 years to 60 years. Mean ± SD of the respondents was 52.41 ± 6.75 years. More than half of the patient 19 (63.30%) were male and 11 (36.70%) patients were female. Most of the patients 17 (56.7%) BMI were in between normal range, 7 (23.3%) were underweight and 6 (20.0%) were overweight. Mean ± SD of the patients BMI was 25.3 ± 5.4 kg/m2. About 12 (40.0%) patients had type III garden fracture, 9 (30.0%) patients had type II garden fracture, and 9 (30.0%) patients had type I garden fracture. Most of the patients 21 (70.0%) had type II Pauwels fracture. The average surgery time was 76.65 ± 34.25 min, the blood loss was 67.45 ± 51.43 ml, the Preoperative Harris Score was 22.25 ± 4.56 and the Postoperative Harris Score was 83.80 ± 5.78, the healing time was 3.33 ± 0.60 and Femoral neck shortens was 2.20 ± 1.41mm. Non-union had occurred in case of 3 (10.0%) patients, Femoral neck shortening had occurred in 2 (6.7%) case and Femoral neck necrosis had occurred in 1 (3.3%) case. Conclusion: FNS treatment can produce good clinical outcomes for patients with basi cervical femoral neck fractures. FNS exhibits much greater overall construct stability and superior biomechanical qualities. Key words: Femoral neck system, Femoral neck fracture, Harris Hip Score, Surgical fixation device
Presumptive Tuberculosis In Children Below 12 Years At Tertiary Care Rural Hospital
Full text linkBackground: Tuberculosis remains a significant public health challenge, particularly affecting children in India with an estimated 2.2 lakh cases annually. The clinical presentation of tuberculosis in pediatric populations differs markedly from adults, presenting unique diagnostic challenges. This study aimed to investigate presumptive tuberculosis in children below 12 years at a tertiary care rural hospital following the NTEP 2020 protocol.
Objectives:
To diagnose tuberculosis according to NTEP 2020 protocol
To study the clinical profile and nutritional status of these patients
To identify confirmed cases of tuberculosis from presumptive cases
Materials & Methods: We conducted an observational, descriptive cross-sectional study of 120 patients over two years (June 2022 - May 2024) at a tertiary care rural hospital. Children presenting with persistent fever or cough exceeding two weeks, significant weight loss, or contact history with pulmonary TB patients were enrolled. A standardized study proforma captured detailed clinical information. Comprehensive evaluation included anthropometric measurements, laboratory investigations, tuberculin testing, radiological assessment, and microbiological studies following NTEP 2020 guidelines.
Results: Among 120 children with presumptive tuberculosis, 75 (62.5%) were confirmed cases. The majority (86.66%) of confirmed cases occurred in children under five years. Males showed higher prevalence (65.33%) compared to females. Persistent cough was the predominant symptom (82.66%), followed by fever (57.33%). Severe acute malnutrition was present in 46.77% of confirmed cases aged 6 months to 5 years. Hilar lymphadenopathy was the most common radiological finding (76%). Mantoux test positivity was observed in 33.33% of confirmed cases. Pulmonary tuberculosis constituted 94.66% of confirmed cases, while 5.33% presented with extrapulmonary manifestations.
Conclusion: Implementation of the NTEP 2020 protocol demonstrates effectiveness in early tuberculosis detection among children. The strong association between malnutrition and tuberculosis emphasizes the need for systematic TB screening in malnourished children. The study supports a comprehensive diagnostic approach combining clinical, radiological, and microbiological criteria, particularly focusing on children under five years who represent the most vulnerable group
A Case Study on the Homeopathic Management of Ankylosing Spondylosis in an Hla-B27 Positive Male: Structural and Functional Recovery through Individualized Homoeopathy
No full textAnkylosing spondylosis (AS) is a chronic inflammatory rheumatic disorder primarily affecting the axial skeleton, causing progressive stiffness, postural deformity, and restricted mobility. It is closely associated with HLA-B27 positivity, signifying a strong autoimmune component. Conventional management relies on NSAIDs, corticosteroids, and biologics, which may provide temporary relief but often lead to adverse effects such as gastric irritation and steroid dependency.
This case presents a 38-year-old male diagnosed with HLA-B27 positive ankylosing spondylosis, exhibiting severe spinal stiffness, thoracic hump formation, and hip joint immobility. Under individualized homeopathic treatment at Dr Batra’s Clinic, remarkable recovery was noted — including 90 % correction of thoracic hump, complete hip mobility restoration, and 70–80 % reduction in spinal stiffness and pain, with resolution of associated gastric and skin complaints.
This case demonstrates the holistic, long-term efficacy of individualized homeopathic management in an autoimmune degenerative disorder such as ankylosing spondylosis
A Classical Homeopathic Case of Chronic Facial Melasma Successfully Treated at Dr Batra’s Homeopathy Clinic
No full textMelasma is a chronic, relapsing hyperpigmentary disorder with multifactorial etiology and significant psychosocial impact. A young female presented with long-standing facial melasma refractory to conventional topical therapies, associated with photosensitivity, hormonal variations, stress, nutritional deficiencies, and marked emotional sensitivity. Despite multiple prior interventions, improvement was minimal. Individualized classical homeopathic treatment, supported by lifestyle and dietary modifications, resulted in progressive, sustained improvement in pigmentation, skin texture, and overall well-being. This case highlights a clear clinical transformation achieved at Dr Batra’s® Homeopathy Clinic after failure of other treatment approaches
A Successfully Managed Case of Chronic Facial Sebo-Psoriasis Treated at Dr Batra’s® Homeopathy Clinic – A Classical Homeopathic Case Study
No full textChronic facial inflammatory dermatoses significantly affect psychosocial well-being in young adults and often show limited response to conventional therapy. This paper presents a classical homeopathic case of chronic facial sebo-psoriasis with perioral distribution, previously unresponsive to allopathic management. The case was managed using individualized constitutional homeopathy based on totality, repertorisation, susceptibility, and miasmatic evaluation. Progressive improvement was observed in cutaneous as well as psychological parameters, culminating in complete remission and restoration of confidence. This case highlights a clear transformation achieved through classical homeopathic management at Dr Batra’s® Homeopathy Clinic
A Pharmacoeconomic Analysis in the management of breast cancer
No full textBackground: Pharmacoeconomic evaluation of breast cancer treatments is vital for informed decisions, comparing treatment alternatives, and evaluating cost and budget impact. Clinicians\u27 knowledge about the prescription of anticancer treatments enhances patient outcomes.
Objectives: To study the regimen used and pharmacoeconomical analysis for the management of breast cancer.
Methodology: After obtaining approval from the ethical committee, a prospective study was conducted to analyze the pharmacoeconomics of commonly prescribed drugs for breast cancer management over six months. Data was collected from the patient\u27s treatment chart using a well-designed data collection form. The cost of treatment was determined by estimating and analyzing the direct and indirect costs of materials, labor, and laboratory studies.
Result: A total of 102 patients were enrolled in the study, and the mean age of the patients was 52±8.9 years. Most of the patients were prescribed chemotherapeutic drugs. The average overall expenditure on breast cancer management was Rs. 293114.67, with total direct and indirect medical costs for the patient being Rs. 616591.7 and Rs. 8374.11, respectively. Targeted therapy costs accounted for 33.57% of the total direct medical costs during the 6-month period. The average cost for patients in the adjuvant setting was Rs. 339314.18, while in the neoadjuvant setting it was Rs. 181111.15.
Conclusion: Breast cancer therapy significantly impacts patients and healthcare providers, necessitating the establishment and strengthening of health insurance coverage mechanisms for pooling resources and risk transfer
Holistic Management of Chronic Hair Fall: A Homeopathic Approach with Constitutional and Biochemic Support
No full textHair fall, medically known as alopecia, is a common condition affecting millions worldwide, impacting both physical appearance and psychological well-being. Conventional approaches often focus on topical treatments, nutritional supplementation, but long-term results may be limited if underlying emotional or constitutional factors are not addressed. This case study presents a 28-year-old female patient experiencing chronic hair fall which worsened following periods of grief and surgical intervention. A holistic homeopathic approach was employed, targeting both physical and psychological aspects. Over the course of treatment patient reported enhanced confidence and overall satisfaction. This paper highlights the significance of addressing emotional and constitutional factors in hair fall management. It demonstrates how a holistic, patient-centered homeopathic approach can lead to sustained improvement in both physical and mental health, emphasizing the integration of lifestyle optimization, individualized remedies, and emotional support
Transfusion Practices and Outcomes in Pediatric Patients with Severe Anemia: A Single-Center Retrospective Study
No full textBackground: Severe anemia in pediatric patients remains significant cause of morbidity and mortality, with blood transfusion serving as critical life-saving intervention. This study aimed to analyze transfusion practices and clinical outcomes in children presenting with severe anemia at tertiary care center.
Methods: This retrospective observational study included 284 pediatric patients aged 1 month to 12 years with severe anemia (hemoglobin ≤7 g/dL) who received packed red blood cell transfusion between January 2023 and December 2025. Demographic characteristics, etiological profile, transfusion details, and clinical outcomes were analyzed. Multivariate logistic regression identified independent predictors of prolonged hospitalization.
Results: The median age was 3.8 years (IQR: 1.5-7.2) with male predominance (58.1%). Children under five years constituted 63.4% of the cohort. Nutritional deficiency anemia was leading etiology (41.5%), followed by hemolytic anemias (22.2%) and malaria-associated anemia (12.3%). Mean pre-transfusion hemoglobin was 4.8±1.4 g/dL, increasing to 7.9±1.6 g/dL post-transfusion, with adequate response in 78.5% of patients. Transfusion reactions occurred in 9.9% of cases, predominantly febrile non-hemolytic reactions. Median hospital stay was 6 days. Overall mortality was 3.5%, with symptom resolution in 94.5% of survivors. Cardiac decompensation (aOR 2.84), bone marrow failure (aOR 4.12), hemoglobin ≤4 g/dL (aOR 1.98), and multiple transfusion requirements (aOR 2.56) were independent predictors of prolonged hospitalization.