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Syringocystadenoma Papilliferum Of Left Cheek In A 66 Year Old Adult, Bifica Sofia Lyngdoh, Thangjam Ruchika Devi, Bibenthung S Odyuo, Neizekhotuo Brian Shunyu, Sankappa P Sinhasan Aug 2026

Syringocystadenoma Papilliferum Of Left Cheek In A 66 Year Old Adult, Bifica Sofia Lyngdoh, Thangjam Ruchika Devi, Bibenthung S Odyuo, Neizekhotuo Brian Shunyu, Sankappa P Sinhasan

Indian Journal of Health Sciences and Biomedical Research KLEU

Syringocystadenoma papilliferum (SCAP) also known as papillary syringadenoma are rare tumors that are thought to arise from the apocrine or the eccrine sweat glands or both and occur usually in the head and neck region of children and adolescents. Hereby we report a case of a 66-year-old lady who presented with a 20-year history of a lesion on the left cheek. Despite the clinical appearance similar to basal cell carcinoma, histopathological examination identified it as Syringocystadenoma papilliferum. Since the tumor can undergo malignant transformation, complete excision is necessary.


Reduction In Albumin-Creatinine Ratio Following Integrative Ayurvedic Care In Elderly Woman With Type 2 Diabetes And Masld: A Case Report, Aman Singhal, Shivani Ghildiyal, Vanshika Sharma, Vaidehi Dutt Aug 2026

Reduction In Albumin-Creatinine Ratio Following Integrative Ayurvedic Care In Elderly Woman With Type 2 Diabetes And Masld: A Case Report, Aman Singhal, Shivani Ghildiyal, Vanshika Sharma, Vaidehi Dutt

Indian Journal of Health Sciences and Biomedical Research KLEU

Background: Metabolic dysfunction–associated steatotic liver disease (MASLD) frequently coexists with type 2 diabetes mellitus (T2DM) and early diabetic kidney disease, and the combination accelerates both hepatic and renal risk. Conventional care is centred on glycaemic and lipid control and renin–angiotensin blockade, but residual symptom burden and incomplete biomarker control are common, prompting interest in adjunctive whole-system approaches.
Case presentation: An elderly woman aged 70 years with recently detected T2DM, long-standing nephrolithiasis and dyslipidaemia presented to an Ayurvedic hospital with anorexia, bilateral hypochondrial pain after meals, acidity and headache. Baseline evaluation (July 2025) showed HbA1c 7.5%, LDL-cholesterol …


Plexiform Schwannoma In The Chest Wall: A Rare Case Report, Yakala Shreyas, Anchana Gulati, Deepika Sharma, Digvijay Singh Dattal Aug 2026

Plexiform Schwannoma In The Chest Wall: A Rare Case Report, Yakala Shreyas, Anchana Gulati, Deepika Sharma, Digvijay Singh Dattal

Indian Journal of Health Sciences and Biomedical Research KLEU

Schwannomas are slow-growing tumors arising from the Schwann cells of the nerve sheath. The plexiform variant grows in a multinodular or plexiform pattern and may resemble either the conventional or cellular type. Clinically, these tumors are usually solitary, skin-colored nodules along the course of peripheral or cranial nerves, most commonly between 2 and 4 cm. They are typically found in the head and neck region or on the flexor surfaces of the extremities and may be associated with neurofibromatosis type 2, but not type 1. Most schwannomas show a histological biphasic pattern with compact Antoni A areas, sometimes with nuclear …


Ayurvedic Management In Chronic Refractory Mukhadushika (∼Acne Vulgaris): A Case Report, Priyanka Thakur, Varisha Rehman, Sandeep Singh Tiwari, Rupashri Nath Aug 2026

Ayurvedic Management In Chronic Refractory Mukhadushika (∼Acne Vulgaris): A Case Report, Priyanka Thakur, Varisha Rehman, Sandeep Singh Tiwari, Rupashri Nath

Indian Journal of Health Sciences and Biomedical Research KLEU

Chronic refractory Mukhdushika, closely correlated to Acne Vulgaris, represents significant therapeutic hurdles due to its relapsing nature and partial responsiveness to treatment. This case report describes a 26-year-old male with a total of 8 years of recurrent papulopustular acne associated with pain, burning sensation, itching, and post inflammatory hyperpigmentation. According to the Ayurvedic assessment, Pitta pradhan tridoshaja involvement with agnidushti and ama leaded to strotorodha. Dosha pratyanika chikitsa was planned, including agnideepana, ama pachana, rakta prasadana, nitya virechana, followed by strict nidana parivarjana, yoga, and lifestyle modification. Relapsing tendency and inflammatory lesions gradually …


A Clinical Study To Evaluate The Efficacy Of Ashmarihar Kwatha With Pashanbhedadi Kwatha In The Management Of Mootrashmari (∼Urolithiasis)- Open-Labelled Randomized Comparative Clinical Trial, Komang Sudarmi, T. S. Dudhamal, Manisha Mansukh Kapadiya Aug 2026

A Clinical Study To Evaluate The Efficacy Of Ashmarihar Kwatha With Pashanbhedadi Kwatha In The Management Of Mootrashmari (∼Urolithiasis)- Open-Labelled Randomized Comparative Clinical Trial, Komang Sudarmi, T. S. Dudhamal, Manisha Mansukh Kapadiya

Indian Journal of Health Sciences and Biomedical Research KLEU

Background: Urolithiasis, the formation of urinary stones, is a prevalent global health issue. It commonly causes severe acute back pain and can lead to serious complications such as pyelonephritis or acute renal failure. Kidney stone formation is a common urological problem with a lifetime prevalence of approximately 10% in men and 6% in women. The study aimed to evaluate and compare the clinical effect of Ashmarihar kwatha (AK) and Pashanbhedadi kwatha (PK) in the management of Mootrashmari (∼Urolithiasis).
Material and Method: The primary objective of the study was to assess the clinical efficacy of Ashmarihar kwatha and Pashanbhedadi kwatha in …


Diffusing The Diabetes Bomb: A Study On The Risk Of Diabetes Among The Youth In Kerala Using The Indian Diabetes Risk Score, Megha V, Merin Jose, Neha S, Shaliet Rose Sebastian Aug 2026

Diffusing The Diabetes Bomb: A Study On The Risk Of Diabetes Among The Youth In Kerala Using The Indian Diabetes Risk Score, Megha V, Merin Jose, Neha S, Shaliet Rose Sebastian

Indian Journal of Health Sciences and Biomedical Research KLEU

Background: Despite being a relatively small state, Kerala has a high prevalence of diabetes in India, with approx. 16% of the population affected. A worrying proportion of cases remain undiagnosed, putting individuals at risk of complications without proper management. Early diagnosis, effective management, and addressing risk factors are crucial to controlling the disease and its complications.

Objective: To assess the risk of diabetes and its correlates among youth of both gender belonging to age group of 20–35 years using the Indian diabetes risk score in Thiruvalla, Central Kerala.
Methodology: A cross sectional study was conducted among youth of both gender …


Assessing The Ergonomic And Anthropometric Challenges Of The Potters Community: A Case Of Pottery Town, Bengaluru, Rajashree. P. Babladi, Nalini N. S., Vidhya M. S. Aug 2026

Assessing The Ergonomic And Anthropometric Challenges Of The Potters Community: A Case Of Pottery Town, Bengaluru, Rajashree. P. Babladi, Nalini N. S., Vidhya M. S.

Indian Journal of Health Sciences and Biomedical Research KLEU

Pottery and statue-making are physically demanding crafts involving prolonged sitting postures, repetitive movements, and exposure to environmental conditions. These craftsmen tend to suffer from musculoskeletal disorders because of poor workspace ergonomics. This study aims to evaluate the ergonomic and anthropometric problems encountered by the potters' community of Pottery Town, Bengaluru. The research used qualitative and quantitative methods, focusing on observation, survey, and documentation of artisan activities. Data was collected from field visits, ergonomic examination, and interviews involving stakeholders, which included potters, statue makers, and physiotherapists. Observation of the posture recording, patterns of work, and the use of space in the …


Effect Of Buprenorphine On Characteristics Of Ultrasound-Guided Supraclavicular Brachial Plexus Block With Levobupivacaine And Bupivacaine-A Prospective Double-Blind Randomized Controlled Trial, Pushpavathi Ture, Ashwini H R, Jyothi B, Ajay Ture, Likhith L M, Kalaivani S Aug 2026

Effect Of Buprenorphine On Characteristics Of Ultrasound-Guided Supraclavicular Brachial Plexus Block With Levobupivacaine And Bupivacaine-A Prospective Double-Blind Randomized Controlled Trial, Pushpavathi Ture, Ashwini H R, Jyothi B, Ajay Ture, Likhith L M, Kalaivani S

Indian Journal of Health Sciences and Biomedical Research KLEU

Background The use of ultrasound in supraclavicular brachial plexus block has improved the success rate of block with excellent localization and improved safety margin. Reports of toxicity with levobupivacaine are scarce, yet it has not entirely replaced bupivacaine in clinical practice. Aims/Objectives We investigated the anesthetic potency with onset of sensory block as primary objective between bupivacaine with buprenorphine and levobupivacaine with buprenorphine for supraclavicular block in patients undergoing upper limb surgeries. Methods This randomized prospective double-blind study was conducted on sixty patients 18 to 60 years of age. Twenty ml of either inj bupivacaine 0.5% (Group A) or inj …


Measuring What Matters: India's Draft National Health Research Policy (2026) Puts Patient Outcomes Over Publication Metrics, Punnya V. Angadi Aug 2026

Measuring What Matters: India's Draft National Health Research Policy (2026) Puts Patient Outcomes Over Publication Metrics, Punnya V. Angadi

Indian Journal of Health Sciences and Biomedical Research KLEU

For years, success in Indian health research meant papers, citations, and patents. However, this rarely meant better outcomes for patients. India's Draft National Health Research Policy, 2026, proposes a fundamental shift in how research success is defined and attempts to close this gap. In this editorial, the main elements of the policy, such as proposing the ICMR Impact of Research and Innovation Scale (ICMR-IRIS), reformed research infrastructure, and a National Health Research Agenda shaped by real population needs rather than publishing convenience, are discussed. These components are placed in the context of a broader global shift towards responsible research evaluation. …


Virtual Sensing And Ai Method For In-Cabin Airflow (Q) Estimation And Closed-Loop Hvac Control, Anonymous Aug 2026

Virtual Sensing And Ai Method For In-Cabin Airflow (Q) Estimation And Closed-Loop Hvac Control, Anonymous

Defensive Publications Series

Vehicle HVAC blower control is typically open-loop, using commanded voltage or PWM duty cycle and assuming a fixed relationship to delivered airflow. In reality, airflow reaching the occupant depends on duct losses, filter loading, blower/compressor efficiency, altitude, air density, and vehicle variation. Since comfort depends on actual vent airflow (i.e., not blower voltage),this method estimates delivered airflow (Q = A·v, m³/s) through physics-based and AI sensor fusion using existing vehicle signals, then closes the control loop on estimated Q rather than commanded voltage.


Artificial Intelligence Driven Insights And Predictions For A Television Application, Neetesh Mittal, Vivek Kushwaha, Vivek Yadav, Saravanan Santhamoorthy Theckyam Aug 2026

Artificial Intelligence Driven Insights And Predictions For A Television Application, Neetesh Mittal, Vivek Kushwaha, Vivek Yadav, Saravanan Santhamoorthy Theckyam

Defensive Publications Series

Traditional data analytics for television applications rely on manual, dashboard-centric models that track historical user activity. These traditional data analytics for television applications fail to explain underlying user behaviors or to correlate multiple simultaneously launched features with core business objectives. To address these limitations, the disclosed technology describes an autonomous analytical system that utilizes a distributed client-server architecture that hosts a hierarchical multi-agent backend built on an orchestration framework. A supervisor agent coordinates specialized domain engines to execute targeted statistical, performance, and viewership analysis algorithms over read-only television application databases. Communication under strict End-User Credential (EUC) zero-trust security and under …


Visual Representation Of Ai Agents Replacing Inactive Users In Chat Interfaces, Ramprasad Sedou, Punit Pandia Aug 2026

Visual Representation Of Ai Agents Replacing Inactive Users In Chat Interfaces, Ramprasad Sedou, Punit Pandia

Defensive Publications Series

Chat-based communication platforms use visual identity markers such as profile pictures and avatars to identify message sources. When users become temporarily or permanently unavailable, AI (artificial intelligence) agents may generate responses on their behalf. However, displaying the original user's avatar for AI-generated messages may mislead recipients into believing they are communicating with the human user, while replacing avatars with generic AI icons may obscure user identification in group settings. Disclosed are systems and methods for visually representing AI agent activity within chat interfaces through modified avatar presentations that combine elements of the original user's visual identity with indicators of AI …


Caldwell Cmhre-Ω1.2 Open-Hardware Modular Thermal Stabilization, Direct-Liquid-Cooling, And Waste-Heat Utilization Research Platform, Michael Victor Caldwell Mr. Aug 2026

Caldwell Cmhre-Ω1.2 Open-Hardware Modular Thermal Stabilization, Direct-Liquid-Cooling, And Waste-Heat Utilization Research Platform, Michael Victor Caldwell Mr.

Defensive Publications Series

The Caldwell CMHRE-Ω1.2 is a modular open-hardware research platform for evaluating direct liquid cooling, thermal stabilization, phase-change buffering, low-grade thermoelectric energy recovery, gyroid-inspired flow distribution, localized vortex/impingement heat-transfer enhancement, and adaptive thermal control.

CMHRE-Ω1.2 uses a controlled 100–500 W electrically metered copper heater block as a chip analog. A primary, conventional liquid-cooling loop is always available to remove the full thermal load safely. Optional research modules operate in bypassable side streams so no experimental energy-recovery module becomes a mandatory thermal bottleneck.

The platform incorporates selected practical elements from the posted CIERS-TEG v3.0 disclosure: detailed metering and control architecture, copper-foam-enhanced PCM, …


Systemic Progress Regeneration Protocol (Sprp), Volodymyr Kotegov Aug 2026

Systemic Progress Regeneration Protocol (Sprp), Volodymyr Kotegov

Defensive Publications Series

This protocol defines the mandatory rules for the creation, evaluation, acceptance, and long-term stewardship of engineering work by parties that voluntarily adopt it.

The protocol exists to counteract a fundamental process: the spontaneous decay of civilizationally critical engineering knowledge. Its objective is not the production of superior individual artifacts. Its objective is the sustained growth of the survivable mass of engineering knowledge — the quantity of knowledge that remains comprehensible, reproducible, and extensible after complete institutional rupture, generational turnover, and loss of external infrastructure.

The protocol claims no universal authority. It applies only to nodes and Inheritance Lines that have …


System And Method For Swarm-Directed Autonomous Fleet Training And Assessment Across Vehicle Domains, Eric Zavesky Aug 2026

System And Method For Swarm-Directed Autonomous Fleet Training And Assessment Across Vehicle Domains, Eric Zavesky

Defensive Publications Series

A system and method for coordinated autonomous vehicle fleet training and assessment across vehicle domains is disclosed. The system comprises a networked fleet of autonomous vehicles operating as self-directed agents with built-in self-preservation, each vehicle configured to receive semantic scenario constraints, interpret and fill gaps using autonomous driving intelligence, independently detect collision risk, and coordinate evasive maneuvers with other vehicles without blindly trusting central commands. A training orchestration engine transmits semantic constraints at multiple specificity levels without specifying complete trajectories. A distributed safety protocol layer implements a three-level detection hierarchy enabling any vehicle or system level to trigger coordinated safety …


Ciers‑Teg V3.0 Thermal Cascade Waste‑Heat Recovery System, Michael Victor Caldwell Mr. Aug 2026

Ciers‑Teg V3.0 Thermal Cascade Waste‑Heat Recovery System, Michael Victor Caldwell Mr.

Defensive Publications Series

CIERS‑TEG v3.0 is an open‑hardware, research‑grade thermal‑energy recovery architecture designed for high‑density compute environments such as AI GPU clusters, power‑electronics arrays, and industrial process lines. The system captures waste heat at the chip level, routes it through a controlled thermal cascade, and converts portions of that heat into electrical power, stored thermal energy, and useful low‑grade utilities. Unlike single‑stage thermoelectric approaches, CIERS‑TEG v3.0 maintains exergy across multiple descending temperature stages using microfluidic extraction, gyroid thermal spreading, phase‑change buffering, condensation‑based utility recovery, and parasitic pump‑energy harvesting.

The architecture integrates several previously independent open‑hardware subsystems: Arachne‑Chip ULTRA‑REAL for direct‑die microfluidic heat capture; …


Autonomous Flameless Thermochemical Heating Boiler With Gravity Feed Of Encapsulated Composite Metal Fuel Briquettes, Passive Bimetallic Ash Removal And In-Situ Catalytic Hydrogen Recombination, Volodymyr Kotegov Aug 2026

Autonomous Flameless Thermochemical Heating Boiler With Gravity Feed Of Encapsulated Composite Metal Fuel Briquettes, Passive Bimetallic Ash Removal And In-Situ Catalytic Hydrogen Recombination, Volodymyr Kotegov

Defensive Publications Series

The invention relates to autonomous heating systems for residential and small commercial buildings, specifically to flameless thermochemical boilers utilizing controlled exothermic reactions between a solid composite metal-based fuel, water vapour and atmospheric oxygen. The boiler is classified under IPC classes F24H 1/00, F24V 30/00, C01B 3/08, F23C 13/00 and C10L 5/40. It represents a combined system for heat generation and a specialised solid composite fuel manufactured from processed industrial waste. Once initiated, the boiler operates passively in a self-sustained mode and requires only minimal electricity during a brief start-up phase.


Deterministic Predictive State (Dps) Architecture For High-Latency Interplanetary Command And Control, Volodymyr Kotegov Aug 2026

Deterministic Predictive State (Dps) Architecture For High-Latency Interplanetary Command And Control, Volodymyr Kotegov

Defensive Publications Series

Round-trip light-time delays between Earth and Mars routinely reach 20–40 minutes. Under these conditions conventional transactional databases and consensus protocols either lock up or time out.

This paper describes a practical architecture that avoids the problem by running identical, bit-for-bit deterministic simulators on the ground and on the spacecraft. All calculations use software fixed-point arithmetic. Both sides share the same atomic-clock timeline (corrected for relativity) and the same sequence of pseudorandom seeds. When delayed telemetry arrives via DTN, the ground side rewinds its state to the timestamp of the data, merges the real measurements with CRDTs, and fast-forwards the simulation …


Path-Diverse Optical Mesh With Erasure Coding (Pdomec): A Non-Line-Of-Sight Tolerant Architecture For Free-Space Optical Inter-Satellite Links, Volodymyr Kotegov Aug 2026

Path-Diverse Optical Mesh With Erasure Coding (Pdomec): A Non-Line-Of-Sight Tolerant Architecture For Free-Space Optical Inter-Satellite Links, Volodymyr Kotegov

Defensive Publications Series

Free-space optical links in satellite constellations deliver high bandwidth but are vulnerable to short-duration blockages caused by orbital debris, atmospheric turbulence, cloud cells and pointing jitter. Conventional link-level retransmission (ARQ) fails on long inter-satellite baselines because the propagation delay exhausts buffers and collapses throughput.

This paper describes a framing-layer architecture that tolerates such blockages without retransmissions or mechanical re-pointing. Incoming data are collected into fixed-length frames, expanded by erasure coding (Reed-Solomon or rateless fountain codes) with a configurable over-provisioning ratio, and the resulting shards are injected simultaneously across multiple spatially separated optical terminals on the same node. The receiving node …


Association Between The Number Of Remaining Teeth And Oral Frailty In Older Adults, Wei-Chun Lin Aug 2026

Association Between The Number Of Remaining Teeth And Oral Frailty In Older Adults, Wei-Chun Lin

Articles in Press

No abstract provided.


Resins And Three-Dimensional Printers In Manufacturing Direct-Printed Dental Aligners, Wei-Chun Lin Aug 2026

Resins And Three-Dimensional Printers In Manufacturing Direct-Printed Dental Aligners, Wei-Chun Lin

Articles in Press

No abstract provided.


Influence Of Facial Marker Position On The Accuracy Of Dental Facial Scanning, Wei-Chun Lin Aug 2026

Influence Of Facial Marker Position On The Accuracy Of Dental Facial Scanning, Wei-Chun Lin

Articles in Press

No abstract provided.


Anemia, Hematinic Defificiencies, And Hyperhomocysteinemia In Gastric Parietal Cell Antibody-Positive And -Negative Recurrent Aphthous Stomatitis Patients, Chun-Pin Chiang Aug 2026

Anemia, Hematinic Defificiencies, And Hyperhomocysteinemia In Gastric Parietal Cell Antibody-Positive And -Negative Recurrent Aphthous Stomatitis Patients, Chun-Pin Chiang

Articles in Press

No abstract provided.


Exosomes Derived From Bone Substitute-Induced Gingival Mesenchymal Stem Cells Promote Angiogenesis, Liangkun Xie Aug 2026

Exosomes Derived From Bone Substitute-Induced Gingival Mesenchymal Stem Cells Promote Angiogenesis, Liangkun Xie

Articles in Press

No abstract provided.


Anemia, Hematinic Deficiencies, Hyperhomocysteinemia, And Serum Gastric Parietal Cell Antibody Positivity In Recurrent Aphthous Stomatitis Patients With Vitamin B12 Deficiency, Chun-Pin Chiang Aug 2026

Anemia, Hematinic Deficiencies, Hyperhomocysteinemia, And Serum Gastric Parietal Cell Antibody Positivity In Recurrent Aphthous Stomatitis Patients With Vitamin B12 Deficiency, Chun-Pin Chiang

Articles in Press

No abstract provided.


Anemia, Hematinic Defificiencies, Hyperhomocysteinemia, And Serum Gastric Parietal Cell Antibody Positivity In 430 Patients With Recurrent Aphthous Stomatitis, Chun-Pin Chiang Aug 2026

Anemia, Hematinic Defificiencies, Hyperhomocysteinemia, And Serum Gastric Parietal Cell Antibody Positivity In 430 Patients With Recurrent Aphthous Stomatitis, Chun-Pin Chiang

Articles in Press

No abstract provided.


An Artificial Intelligence Assisted Framework For Automated Quantified Root Canal Curvature Measurement On Periapical Radiographs, Shih-Lun Chen Aug 2026

An Artificial Intelligence Assisted Framework For Automated Quantified Root Canal Curvature Measurement On Periapical Radiographs, Shih-Lun Chen

Articles in Press

No abstract provided.


Identification Of Two Rare Variants In Slc2a1 And Smc1a In A Child With Epilepsy And Behavioral Disorders: A Case Report From Côte D’Ivoire, Kouakou Kouame Cyprien, Doumbia Mariam, Dainguy Marie Evelyne, Folquet Amorissani, Augustine Djivohessoun Aug 2026

Identification Of Two Rare Variants In Slc2a1 And Smc1a In A Child With Epilepsy And Behavioral Disorders: A Case Report From Côte D’Ivoire, Kouakou Kouame Cyprien, Doumbia Mariam, Dainguy Marie Evelyne, Folquet Amorissani, Augustine Djivohessoun

Journal of Pediatric Genetics

Background: Epilepsy and behavioral disorders in children can result from various genetic etiologies. We report the case of a child with refractory epilepsy and behavioral disturbances in whom two rare variants were identified in the SLC2A1 and SMC1A genes. This case highlights the importance and challenges of early molecular diagnosis in resource-limited African settings. Case Presentation: A male child presented with early-onset epilepsy and significant behavioral disturbances. Neurological examination showed no malformations. Brain MRI was normal. Sleep EEG revealed no interictal epileptiform activity. Psychomotor assessment indicated hyperactivity, attentional deficits, fine and gross motor difficulties, and opposition to limits. Initial developmental …


Alopecia In Hereditary Epidermolysis Bullosa: A Series Of 52 Cases, Kmar Turki, Khadija Sellami, Rim Chaabouni, Fatma Hammami, Emna Mnif, Emna Bahloul, Hamida Turki Aug 2026

Alopecia In Hereditary Epidermolysis Bullosa: A Series Of 52 Cases, Kmar Turki, Khadija Sellami, Rim Chaabouni, Fatma Hammami, Emna Mnif, Emna Bahloul, Hamida Turki

Journal of Pediatric Genetics

Background: Hereditary epidermolysis bullosa (EB) is a genetic disorder affecting skin adhesion proteins, which can impact hair follicle integrity, leading to alopecia. Objectives: We aimed to describe the epidemiological and clinical characteristics of alopecia in EB and its correlation with EB subtypes. Methods: Patients with EB were selected retrospectively and data on alopecia were collected. Results: Among 52 EB patients (M/F ratio = 1.08) with a mean age of 18.8 years (5 months to 65 years), subtypes included recessive dystrophic EB, severe (RDEB-sev) (57.7%), recessive dystrophic EB, intermediate (RDEB-int) (25%), dominant dystrophic EB (DDEB) (7.7%), autosomal dominant EB simplex, severe …


Succinyl-Coa:3-Ketoacid Coa Transferase (Scot) Deficiency: Case Series Of Eight Patients With Novel Oxct1 Mutations From A Consanguineous Population In India, Radharamadevi Akella Aug 2026

Succinyl-Coa:3-Ketoacid Coa Transferase (Scot) Deficiency: Case Series Of Eight Patients With Novel Oxct1 Mutations From A Consanguineous Population In India, Radharamadevi Akella

Journal of Pediatric Genetics

Background: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive inborn error of metabolism caused by biallelic mutations in the OXCT1 gene. It results in defective ketone body utilization and presents with recurrent or life-threatening episodes of high anion gap metabolic ketoacidosis. Methods: Analysis of eight patients from seven unrelated families diagnosed with SCOT deficiency based on clinical, biochemical, and molecular findings was performed. Molecular genetic analysis of the OXCT1 gene was carried out in the patients and their parents (trio) using whole-exome sequencing. Results: All eight patients had documented high anion gap ketoacidosis as the primary manifestation. Molecular …