Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case

Background and Importance:Tuberous sclerosis, also known as Bourneville's disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in diagnosing tuberous sclerosis and the need for rigorous follow-up of patientsto prevent complications. Case Presentation: Here we present a case of a 10-year-old boy presenting with intractable seizure and hypo-pigmented patches on his face and back of trunk. In neuroimaging evaluation, subependymal giant cell astrocytoma was diagnosed. Further, hisabdominal ultrasound showed multiple hamartomatous lesions in the liver and bilateral kidney. His cardiology and dental evaluation were normal. The dermatologist diagnosed a shagreen patch on the back of his trunk. Based on the latest clinical diagnostic criteria, he was diagnosed with a case of tuberous sclerosis and has been on the rigorous follow-up ever since. Conclusion: Since tuberous sclerosis is a multisystem disease, early diagnosis is necessary to prevent acute symptoms and prevent long-term complications. Here we emphasize the need to use clinical criteria instead of genetic study for early diagnosis of tuberous sclerosis

Aneurysmal bone cyst of dorsal spine presenting with paraparesis in a pediatric patient: a case report

Introduction: Aneurysmal bone cyst (ABC) are rare benign tumours of spine. They most commonly presents with backache. However neurological deficit in spinal ABCs are not uncommon. Magnetic resonance imaging of ABC may sometimes be confused with osteosarcoma or Giant cell tumours. Treatment options are varied but complete excision of tumour with spine stabilisation should be the goal. Clinical case: Here we presented the case of a 13 year old girl presenting with spastic paraparesis and bladder incontinence with MRI dorsal spine suggestive of an expansile lesion of D5 body. She underwent subtotal corpectomy with fixation of spine . Biopsy was suggestive of aneurysmal bone cyst. Post operative neurological outcome was excellent and followup scans over 2 year period suggest complete remission. Discussion: ABC are non neoplastic expansile bone lesion consisting of blood filled spaces separated by connective tissue septa of bony trabeculation and osteoclastic giant cells. Similar to our case it is seen more commonly in young females. Lumbar spine has higher incidence of ABC as compared to dorsal and cervical spine. Most common presentation is backache. Surgical options for ABC include intralesional curettage, en bloc resection followed by fixation. Vertebroplasty is also a treatment option to reinforce spinal stability. Post operative radiotherapy also can be considered in partially resected cases. Although ABC have high recurrence rate of 10-44% which has been reported with 2 years following surgery. However our patients continue to have no radiological evidence of recurrence on 2 year follow up. Conclusion: ABCs are benign tumour which may present with neurological deficit. Although treatment of ABC remains controversial but early surgery with complete removal of tumour in patients with neurological deficit provides excellent recovery. However due to high recurrence rate regular follow up is necessary

Recurrence and Functional Outcome following Resection of Craniopharyngioma

Background and Aim: Craniopharyngiomas (CP) are histologically benign tumors of the sellarsuprasellar region and are associated with significant morbidity. Due to the lack of knowledge of the factors responsible for the recurrence of CP and the challenges in surgeries for recurrent CP studies, it is necessary to determine the predictive factors for CP patients for preoperative prognosis and also for proper planning of surgery for a better functional outcome. Using”primum non nocere” or “do no harm” rule, our study tries to find out the optimum surgical strategy to have a better functional outcome as well as to reduce recurrence. Methods and Materials/Patients: This study is a 5-year retrospective analysis of the institutes of neuropathology database and clinical and radiological data with 12 months of follow-up in such patients. Results: Out of 72 patients, 33 were men and 39 were women with a mean age of 17.34 years. A total of 11 patients underwent gross total resection (GTR) and the rest 61 patients were operated by subtotal resection (STR) followed by radiotherapy (RT). The recurrence rate in GTR and STR+radiotherapy (RT)was 1% and 24%, respectively. Eighteen cases had a poor postoperative outcome with a mortality rate of 6.98. Postoperative visual loss, obesity, neurological deficit, and diabetes insipidus (DI) were more common in the GTR group, while postoperative endocrinal dysfunction was more common in the STR+RT group. Also, older age, preoperative vision loss, hypothalamus invasion, and GTR were associated with poor postoperative outcomes. Conclusion: Patient-tailored resection should be performed for better functional outcomes with acceptable recurrence rates. Preoperative risk factor analysis helps to make proper surgical decisions regarding the extent of resection

Proximitized spin-phonon coupling in topological insulator due to two-dimensional antiferromagnet

Induced magnetic order in a topological insulator (TI) can be realized either by depositing magnetic adatoms on the surface of a TI or engineering the interface with epitaxial thin film or stacked assembly of two-dimensional (2D) van der Waals (vdW) materials. Herein, we report the observation of spin-phonon coupling in the otherwise non-magnetic TI Bi$_\mathrm{2}$Te$_\mathrm{3}$, due to the proximity of FePS$_\mathrm{3}$ (an antiferromagnet (AFM), $T_\mathrm{N}$ $\sim$ 120 K), in a vdW heterostructure framework. Temperature-dependent Raman spectroscopic studies reveal deviation from the usual phonon anharmonicity at/below 60 K in the peak position (self-energy) and linewidth (lifetime) of the characteristic phonon modes of Bi$_{2}$Te$_{3}$ (106 cm$^{-1}$ and 138 cm$^{-1}$) in the stacked heterostructure. The Ginzburg-Landau (GL) formalism, where the respective phonon frequencies of Bi$_{2}$Te$_{3}$ couple to phonons of similar frequencies of FePS$_3$ in the AFM phase, has been adopted to understand the origin of the hybrid magneto-elastic modes. At the same time, the reduction of characteristic $T_\mathrm{N}$ of FePS$_3$ from 120 K in isolated flakes to 65 K in the heterostructure, possibly due to the interfacial strain, which leads to smaller Fe-S-Fe bond angles as corroborated by computational studies using density functional theory (DFT). Besides, our data suggest a double softening of phonon modes of Bi$_\mathrm{2}$Te$_\mathrm{3}$ (at 30 K and 60 K), which in turn, demonstrates Raman scattering as a possible probe for delineating the magnetic ordering in bulk and surface of a hybrid topological insulator

Dynamics of Hot QCD Matter -- Current Status and Developments

The discovery and characterization of hot and dense QCD matter, known as Quark Gluon Plasma (QGP), remains the most international collaborative effort and synergy between theorists and experimentalists in modern nuclear physics to date. The experimentalists around the world not only collect an unprecedented amount of data in heavy-ion collisions, at Relativistic Heavy Ion Collider (RHIC), at Brookhaven National Laboratory (BNL) in New York, USA, and the Large Hadron Collider (LHC), at CERN in Geneva, Switzerland but also analyze these data to unravel the mystery of this new phase of matter that filled a few microseconds old universe, just after the Big Bang. In the meantime, advancements in theoretical works and computing capability extend our wisdom about the hot-dense QCD matter and its dynamics through mathematical equations. The exchange of ideas between experimentalists and theoreticians is crucial for the progress of our knowledge. The motivation of this first conference named "HOT QCD Matter 2022" is to bring the community together to have a discourse on this topic. In this article, there are 36 sections discussing various topics in the field of relativistic heavy-ion collisions and related phenomena that cover a snapshot of the current experimental observations and theoretical progress. This article begins with the theoretical overview of relativistic spin-hydrodynamics in the presence of the external magnetic field, followed by the Lattice QCD results on heavy quarks in QGP, and finally, it ends with an overview of experiment results.Comment: Compilation of the contributions (148 pages) as presented in the `Hot QCD Matter 2022 conference', held from May 12 to 14, 2022, jointly organized by IIT Goa & Goa University, Goa, Indi

Аневризмальна кісткова кіста дорзального відділу хребта з парапарезом у дитини: клінічний випадок

Introduction: Aneurysmal bone cyst (ABC) are rare benign tumours of spine. They most commonly presents with backache. However neurological deficit in spinal ABCs are not uncommon. Magnetic resonance imaging of ABC may sometimes be confused with osteosarcoma or Giant cell tumours. Treatment options are varied but complete excision of tumour with spine stabilisation should be the goal. Clinical case: Here we presented the case of a 13 year old girl presenting with spastic paraparesis and bladder incontinence with MRI dorsal spine suggestive of an expansile lesion of D5 body. She underwent subtotal corpectomy with fixation of spine . Biopsy was suggestive of aneurysmal bone cyst. Post operative neurological outcome was excellent and followup scans over 2 year period suggest complete remission. Discussion: ABC are non neoplastic expansile bone lesion consisting of blood filled spaces separated by connective tissue septa of bony trabeculation and osteoclastic giant cells. Similar to our case it is seen more commonly in young females. Lumbar spine has higher incidence of ABC as compared to dorsal and cervical spine. Most common presentation is backache. Surgical options for ABC include intralesional curettage, en bloc resection followed by fixation. Vertebroplasty is also a treatment option to reinforce spinal stability. Post operative radiotherapy also can be considered in partially resected cases. Although ABC have high recurrence rate of 10-44% which has been reported with 2 years following surgery. However our patients continue to have no radiological evidence of recurrence on 2 year follow up. Conclusion: ABCs are benign tumour which may present with neurological deficit. Although treatment of ABC remains controversial but early surgery with complete removal of tumour in patients with neurological deficit provides excellent recovery. However due to high recurrence rate regular follow up is necessary.Аневризматическая костная киста (АКК) является редкой доброкачественной опухолью позвоночника. Чаще всего она проявляется болями в спине. Однако неврологический дефицит при АКК позвоночника не редкость. Магнитно-резонансную томограмму AКК иногда можно спутать с остеосаркомой или гигантоклеточными опухолями. Варианты лечения разнообразны, но целью должно быть полное удаление опухоли со стабилизацией позвоночника. Представлен случай 13-летней девочки со спастическим парапарезом и недержанием мочевого пузыря. Магнитно-резонансная томография дорзальной части позвоночника выявила экспансивное поражение тела позвонка D5. Выполнена субтотальная корпэктомия с фиксацией позвоночника. Результаты биопсии свидетельствовали о наличии АКК. Послеоперационный неврологический результат был хорошим. Контрольные сканирования в течение 2 лет свидетельствуют о полной ремиссии. Аневризматическая костная киста это неопухолевое экспансивное поражение кости, состоящее из заполненных кровью пространств, разделенных соединительнотканными перегородками костных трабекул и остеокластических гигантских клеток. Это чаще наблюдается у молодых женщин. На поясничный отдел позвоночника приходится большее количество случаев АКК по сравнению со спинным и шейным отделами. Наиболее распространенным проявлением является боль в спине. К хирургическим вариантам при AКК относятся внутриочаговое выскабливание и резекция единым блоком с последующей фиксацией. Вертебропластика также является вариантом лечения для укрепления стабильности позвоночника. Послеоперационная лучевая терапия может быть рассмотрена в случаях частичной резекции. По данным литературы, AКК имеет большую частоту рецидивов (10‒44%) через 2 года после операции. Однако наша пациентка не имела радиологических признаков рецидива в течение 2-летнего наблюдения. Таким образом, АКК является доброкачественной опухолью, которая может сопровождаться неврологическим дефицитом. Хотя лечение AКК остается спорным, раннее оперативное вмешательство с полным удалением опухоли у пациентов с неврологическим дефицитом обеспечивает выздоровление. Учитывая большую частоту рецидивов, необходимо регулярное наблюдение.Аневризмальна кісткова кіста (АКК) є рідкісною доброякісною пухлиною хребта. Найчастіше вона виявляється болями в спині. Однак неврологічний дефіцит при АКК хребта не є рідкістю. Магнітно-резонансну томограму AКК іноді можна сплутати з остеосаркомою або гігантоклітинними пухлинами. Варіанти лікування різноманітні, але метою має бути повне видалення пухлини зі стабілізацією хребта. Представлено випадок 13-річної дівчинки зі спастичним парапарезом і нетриманням сечового міхура. Магнітно-резонансна томографія дорзальної частини хребта виявила експансивне ураження тіла хребця D5. Виконано субтотальну корпектомію з фіксацією хребта. Результати біопсії свідчили про наявність АКК. Післяопераційний неврологічний результат був добрим. Контрольні сканування протягом 2 років свідчать про повну ремісію. Аневризмальна кісткова кіста це непухлинне експансивне ураження кістки, що складається із наповнених кров’ю просторів, розділених сполучнотканинними перегородками кісткових трабекул та остеокластичних гігантських клітин. Це частіше спостерігається у молодих жінок. На поперековий відділ хребта припадає більша кількість випадків AКК порівняно зі спинним і шийним відділами. Найпоширенішим виявом є біль у спині. До хірургічних варіантів при AКК належать внутрішньовогнищеве вишкрібання та резекція єдиним блоком з наступною фіксацією. Вертебропластика також є варіантом лікування для зміцнення стабільності хребта. Післяопераційна променева терапія може бути розглянута у випадках часткової резекції. За даними літератури, AКК має велику частоту рецидивів (10‒44%) через 2 роки після операції. Однак наша пацієнтка не мала радіологічних ознак рецидиву протягом 2-річного спостереження. Таким чином, АКК є доброякісною пухлиною, яка може супроводжуватися неврологічним дефіцитом. Хоча лікування AКК залишається суперечливим, раннє оперативне втручання з повним видаленням пухлини у пацієнтів з неврологічним дефіцитом забезпечує одужання. З огляду на велику частоту рецидивів необхідне регулярне спостереження

A rare case of primary orbital Ewings sarcoma with intracranial extension

Primary Ewings sarcomas of orbit with intracranial extension are extremely rare with few cases reported to date. They form an important differential diagnosis in aggressive orbital tumours presenting in young males. We presented the case report of a young male presenting with right eye proptosis. The patient underwent complete tumour excision. Biopsy was suggestive of Ewings sarcoma. Metastatic workup showed extensive lesions in lungs and bones. Six months post-operative follow-up with radiation and chemotherapy showed disease remission. CD99 is a key IHC marker in differentiating from other similar tumours. Total tumour excision with adjuvant radiation and chemotherapy may be helpful in survivability in such patients but overall prognosis still remains poor

A rare case of primary orbital Ewings sarcoma with intracranial extension

Primary Ewings sarcomas of orbit with intracranial extension are extremely rare with few cases reported to date. They form an important differential diagnosis in aggressive orbital tumours presenting in young males. We presented the case report of a young male presenting with right eye proptosis. The patient underwent complete tumour excision. Biopsy was suggestive of Ewings sarcoma. Metastatic workup showed extensive lesions in lungs and bones. Six months post-operative follow-up with radiation and chemotherapy showed disease remission. CD99 is a key IHC marker in differentiating from other similar tumours. Total tumour excision with adjuvant radiation and chemotherapy may be helpful in survivability in such patients but overall prognosis still remains poor