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1.
Ann Plast Surg ; 92(4): e29-e31, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38527346

RESUMO

ABSTRACT: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL. Encephalocraniocutaneous lipomatosis commonly causes skin, eye, and central nervous system anomalies. Diagnosis can be made through genetic sequencing or standardized clinical criteria. One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. In this case, a 50-day-old female infant with uncomplicated birth history presented to dermatology clinic for evaluation of 2 superficial cranial masses that had been present since birth without regression or evolution. One of the masses was located within the hairline and demonstrated overlying nonscarring alopecia, suspicious of NP. Because of concern for ECCL, brain magnetic resonance imaging was ordered and revealed 2 intracranial lipomas. Genetic testing was inconclusive. Excision of the masses was performed at the request of the parents for cosmetic purposes. Histologic evaluation of the surgical specimens confirmed the diagnosis of NP and ECCL. A suspected NP should raise concern for ECCL and prompt further evaluation for systemic involvement. In particular, patients with suspected ECCL should be screened for ocular and CNS involvement. Early identification and diagnosis are important for prognostication because patients with ECCL are at increased risk of developing neoplasms of the head and neck and may require more frequent screening examinations.


Assuntos
Oftalmopatias , Lipomatose , Síndromes Neurocutâneas , Nevo , Neoplasias Cutâneas , Lactente , Humanos , Feminino , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/complicações , Alopecia , Nevo/complicações
2.
Am J Case Rep ; 25: e942527, 2024 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-38519985

RESUMO

BACKGROUND Diffuse intestinal lipomatosis is a rare condition that infiltrates mature fatty tissue into the intestinal submucosa and subserosa of the small or large intestine and can present with intestinal obstruction or torsion. This report is of the case of a 58-year-old woman who had acute torsion of the small bowel due to diffuse small intestinal lipomatosis. CASE REPORT A 58-year-old woman, who was otherwise in good health, arrived at our Emergency Department experiencing sudden, intense pain in the lower abdomen. She also reported abdominal swelling, feelings of nausea, vomiting, and reduced ability to defecate for at least 2 days. The next morning, contrast-enhanced abdominal computed tomography (CT) scan was performed, showing diffuse thickening of the small intestinal wall with hypodensity, fatty density, lumen narrowing, and wall thinning. The small intestine demonstrated a whirlpool-like distribution in the lower right abdomen and localized thickening of the small intestinal wall, suggesting acute intestinal torsion. An hour later, an emergency operation was performed to remove part of the small intestine. Three days later, pathological results showed a thin intestinal wall, expansion of the mucosal layer and submucosa, and hyperplasia of adipose tissue. CONCLUSIONS This report presents a rare case of torsion and small bowel obstruction caused by diffuse intestinal lipomatosis and focuses on the abdominal enhanced CT scan, which showed diffuse thickening of the small intestine, with multiple areas of fat density and torsion of the small intestine in the right lower abdomen. Histopathology is also presented, with the result showing intestinal lipomatosis.


Assuntos
Obstrução Intestinal , Lipomatose , Feminino , Humanos , Pessoa de Meia-Idade , Intestino Delgado/cirurgia , Intestino Delgado/patologia , Abdome , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Tomografia Computadorizada por Raios X , Lipomatose/diagnóstico , Lipomatose/diagnóstico por imagem
3.
Connect Tissue Res ; 65(2): 102-116, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38493368

RESUMO

PURPOSE: Traditionally, the epidural fat (EF) is known as a physical buffer for the dural sac against the force and a lubricant facilitating the relative motion of the latter on the osseous spine. Along with the development of the studies on EF, controversies still exist on vital questions, such as the underlying mechanism of the spinal epidural lipomatosis. Meanwhile, the scattered and fragmented researches hinder the global insight into the seemingly dispensable tissue. METHODS: Herein, we reviewed literature on the EF and its derivatives to elucidate the dynamic change and complex function of EF in the local milieu, especially at the pathophysiological conditions. We start with an introduction to EF and the current pathogenic landscape, emphasizing the interlink between the EF and adjacent structures. We generally categorize the major pathological changes of the EF into hypertrophy, atrophy, and inflammation. RESULTS AND CONCLUSIONS: It is acknowledged that not only the EF (or its cellular components) may be influenced by various endogenic/exogenic and focal/systematic stimuli, but the adjacent structures can also in turn be affected by the EF, which may be a hidden pathogenic clue for specific spinal disease. Meanwhile, the unrevealed sections, which are also the directions the future research, are proposed according to the objective result and rational inference. Further effort should be taken to reveal the underlying mechanism and develop novel therapeutic pathways for the relevant diseases.


Assuntos
Espaço Epidural , Lipomatose , Humanos , Espaço Epidural/patologia , Imageamento por Ressonância Magnética/métodos , Lipomatose/patologia , Osso e Ossos/patologia
4.
Head Face Med ; 20(1): 13, 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-38378686

RESUMO

BACKGROUND: Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear. METHODS: We reviewed the clinical, surgical, and radiological records of 39 FIL patients who were treated at our center. Of these, genetic testing was performed for 21 patients. RESULTS: Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth. Epidermal nevi could be observed in the dermatomes innervated by the three branches of the trigeminal nerve, with the highest frequency seen in the dermatome of the mandibular branch. Four patients exhibited concurrent hemimegalencephaly (HMEG), with one case presenting HMEG on the opposite side of the FIL. Nineteen patients were confirmed to harbor the PIK3CA mutation. Thirty-three patients underwent surgical procedures, with a post resection recurrence rate of approximately 25%. CONCLUSIONS: A variety of maxillofacial structures may be involved in FIL. PIK3CA mutations are important pathogenic factors. Emerging targeted therapies could present an additional treatment avenue in the future. However, surgery currently remains the predominant treatment choice for FIL. The timing and modality of surgery should be individually customized, taking into account each patient's unique circumstances. Notably, there is a significant possibility of postoperative recurrence during childhood and adolescence, necessitating early strategic planning of disease management.


Assuntos
Face , Lipomatose , Adolescente , Humanos , Lipomatose/diagnóstico por imagem , Lipomatose/cirurgia , Lipomatose/genética , Gordura Subcutânea , Lábio/patologia , Mandíbula/patologia
5.
Vet Clin Pathol ; 53(1): 80-84, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38320970

RESUMO

A 2-year-old neutered male bullmastiff dog was presented with chronic left hind limb lameness. Physical examination revealed left stifle effusion and medial buttress without cranial tibial thrust. Radiographs showed joint effusion and new bone formation at the patella apex. Magnetic resonance imaging showed increased synovial fluid, widening of the joint space, abnormal infrapatellar fat body and thinning of the cranial cruciate ligament. Synoviocentesis and cytologic evaluation of synovial fluid revealed marked mononuclear inflammation with abundant fatty tissue, suggesting synovial lipomatosis in conjunction with the imaging findings. The disease was confirmed histologically after sampling the lesion during arthrotomy. Synovial lipomatosis, characterized by extensive synovial adipose tissue proliferation of the synovial membrane, is a rare "tumor-like" disorder that usually affects the stifle. Although the etiology remains unclear, joint trauma, inflammation, instability, and lipid abnormalities have been proposed as causes. Inflammatory factors may promote synoviocyte and adipocyte hyperplasia that perpetuate the process. Surgical removal may be suggested to eliminate triggers and prevent future recurrences. The report provides the first cytological description of adipocytes in synovial fluid associated with the diagnosis of synovial lipomatosis in dogs. This case report underscores the potential effectiveness of cytologic analysis of synovial fluid smears, in combination with magnetic resonance imaging (MRI), for diagnosing this condition and reducing complications associated with arthrotomy for sampling purposes. Additionally, the case highlights that synovial lipomatosis should be considered as a potential differential diagnosis for synovial masses in dogs. Further cases are needed to validate these observations in veterinary medicine.


Assuntos
Doenças do Cão , Artropatias , Lipomatose , Masculino , Cães , Animais , Líquido Sinovial , Artropatias/diagnóstico , Artropatias/veterinária , Joelho de Quadrúpedes/patologia , Lipomatose/veterinária , Adipócitos/patologia , Inflamação/veterinária , Doenças do Cão/patologia
7.
Childs Nerv Syst ; 40(4): 1251-1258, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38217730

RESUMO

INTRODUCTION: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes. CASE SERIES: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions. DISCUSSION: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement. CONCLUSION: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.


Assuntos
Cistos , Oftalmopatias , Glioma , Hidrocefalia , Lipoma , Lipomatose , Síndromes Neurocutâneas , Humanos , Cistos/complicações , Glioma/complicações , Hidrocefalia/complicações , Lipoma/complicações , Lipomatose/cirurgia , Síndromes Neurocutâneas/complicações
8.
Neuro Endocrinol Lett ; 45(1): 69-75, 2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38295429

RESUMO

BACKGROUND: Idiopathic spinal epidural lipomatosis (iSEL) is frequently associated with the utilization of steroids, endocrine disorders, obesity, and surgical interventions. Nevertheless, the pathogenesis of iSEL remains inadequately understood. The study aimed to investigate the contribution of inflammatory factors to idiopathic epidural lipomatosis. METHODS: Thirteen patients with iSEL (Grade III, iSEL group) and 12 patients with lumbar disc herniation (control group) who underwent unilateral biportal endoscopy from March 2020 to April 2023 were enrolled. Histological examination of adipose tissue was the performed to analyze expressions of pro-inflammatory cytokines (TNF-α, IL-1ß), and anti-inflammatory factors (arginase-1, IL-10) in serum and epidural adipose cells. RESULTS: Compared with the control group, the number of inflammatory cell infiltrations per field in HE-stained sections was significantly elevated, TNF-α and IL-1ß expression in adipocytes of epidural adipose tissue were markedly higher, and arginase-1 and IL-10 expression were significantly lower in the iSEL group (all p < 0.001). However, no statistically significant differences were observed in the serum level of TNF-α, IL-1ß, arginase-1, and IL-10 between the two groups (p = 0.963). In addition, there was also no significant disparity in adipocyte size between the two groups (p = 0.739). CONCLUSION: iSEL demonstrated elevated inflammatory cells and imbalance towards proinflammatory cytokines in adipocytes of epidural adipose tissue that may be associated with the pathogenesis of symptomatic iSEL. These data suggest that inflammatory response could be one of the mechanisms of iSEL. However, further multicenter epidemiological investigations and rigorous basic and clinical research are warranted to elucidate the specific etiology of iSEL.


Assuntos
Interleucina-10 , Lipomatose , Humanos , Arginase , Citocinas , Lipomatose/etiologia , Lipomatose/cirurgia , Fator de Necrose Tumoral alfa/metabolismo
9.
Br J Haematol ; 204(1): 292-305, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37876306

RESUMO

Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation. Loss of Shwachman-Bodian-Diamond syndrome (SBDS) expression results in reduced eukaryotic 80S ribosome maturation. Biallelic mutations in the SBDS gene are found in ~90% of SDS patients, ~55% of whom carry the c.183-184TA>CT nonsense mutation. Several translational readthrough-inducing drugs aimed at suppressing nonsense mutations have been developed. One of these, ataluren, has received approval in Europe for the treatment of Duchenne muscular dystrophy. We previously showed that ataluren can restore full-length SBDS protein synthesis in SDS-derived bone marrow cells. Here, we extend our preclinical study to assess the functional restoration of SBDS capabilities in vitro and ex vivo. Ataluren improved 80S ribosome assembly and total protein synthesis in SDS-derived cells, restored myelopoiesis in myeloid progenitors, improved neutrophil chemotaxis in vitro and reduced neutrophil dysplastic markers ex vivo. Ataluren also restored full-length SBDS synthesis in primary osteoblasts, suggesting that its beneficial role may go beyond the myeloid compartment. Altogether, our results strengthened the rationale for a Phase I/II clinical trial of ataluren in SDS patients who harbour the nonsense mutation.


Assuntos
Doenças da Medula Óssea , Insuficiência Pancreática Exócrina , Lipomatose , Humanos , Síndrome de Shwachman-Diamond , Proteína Supressora de Tumor p53/genética , Lipomatose/genética , Códon sem Sentido , Mielopoese , Neutrófilos/metabolismo , Quimiotaxia , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/terapia , Insuficiência Pancreática Exócrina/genética , Ribossomos/metabolismo
10.
J Cutan Pathol ; 51(2): 119-129, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37859590

RESUMO

Nevus lipomatosus still imposes diagnostic, categorization, and etiologic challenges. Even though an intradermal adipose tissue is a histopathologic prerequisite, the lesions are clinically divided into classic multiple forms and a solitary variant, which some consider a separate so-called lipofibroma clinicopathologic entity. This further complicates the true prevalence, classification and etiopathogenesis of nevus lipomatosus. Case reports and series studies have reflected either consistent or variable and sometimes conflicting clinicopathologic findings. A few have reported electron microscopic findings. Immunohistochemistry is lacking. We report two multiple and four solitary forms of nevus lipomatosus in six patients, highlighting their salient histopathologic features and immunohistochemical profile. Both forms showed intradermal groups of perivascular S100+ lipogenic and CD34+ mesenchymal cells intermixed with scattered CD1a+ and FXIIIa+ dendrocytes, CD3 lymphocytic and CD117 mast cells in a fibromyxoid milieu. Epidermal nevoid and comedonal follicular alterations, attenuated dermal connective tissue and adnexal structures were variably present in both forms. We compared our findings with seven series of studies reporting classic and solitary forms. Both forms showed similar histopathologic findings, comparable clinicopathologic features, predominantly pelvic, and shoulder girdle distribution patterns in bimodal age onsets. Even though some lipomatous skin lesions clinically and histopathologically overlap with nevus lipomatosus, certain findings are helpful distinguishing features. Small intradermal islands of lipocytic fibroplasia have characteristic perivascular milieu that may function as a niche of preadipose CD34 mesenchymal stem cells. They are most likely represented in the dermis of the pelvic and shoulder areas in certain individuals prone to maintain these embryonic reservoirs, which are clinically manifested at different ages. Some may have unifocal or multifocal residues reflecting multiple and solitary forms.


Assuntos
Lipomatose , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Lipomatose/patologia , Nevo/patologia , Pele/patologia
11.
Radiol Med ; 129(1): 93-106, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37882917

RESUMO

PURPOSE: The purpose of our study was to provide a novel schematized and comprehensive classification of causes and severity grading system for lumbosacral stenosis. MATERIALS AND METHODS: The MRI system proposed consisted of a severity grading scale for central and lateral (recess and foramen) stenosis, together with a schematized indication of the main causes of the disease (disc, arthritis, epidural lipomatosis, and their combinations). The system was applied to a cohort of patients from a single Institution in the last 2-years. Two radiologists evaluated all the MRIs to determine intra- and inter-observer reliability according to Cohen Kappa (Kc, for non-ordered categorical variables) and weighted Kappa (Kw, for ordered variables). Two orthopaedic surgeons clinically evaluated all patients and provided a schematic grading system with a central and lateral stenosis clinical score (CS-CS and LS-CS). Associations between ordinals were tested with chi-square test and measured with the Goodman and Kruskal's gamma index (Gi, with 95% confidence interval [95% CI]). Lastly, the most used previous MRI systems were applied, and their performances were compared to the new system proposed. RESULTS: One hundred and twelve patients were included (55 females-mean age 63.3 ± 10.7 years). An almost perfect intra-observer agreement for the assessment of central stenosis, foramen stenosis, and lateral recess stenosis was found (Kw = 0.929, 0.928, and 0.924, respectively). The inter-observer agreement was almost perfect for central stenosis and foramen stenosis and substantial for lateral recess stenosis (Kw = 0.863, 0.834, and 0.633, respectively). Whatever the aetiologies involved in central and lateral stenosis, the intra-observer agreement was perfect (all Kc = 1), whereas the inter-observer agreements were almost perfect for arthritis (Kc = 0.838) and lipomatosis (Kc = 0.955) and substantial for disc (Kc = 0.691) regarding central stenosis. The inter-observer agreement for the causes of lateral stenosis was lower and variable, ranging from perfect (lipomatosis) to fair (disc, Kc = 0.224). The grading system revealed a strong association with CS-CS for both readers, with GI = 0.671 (95% CI 0.535-0.807) and 0.603 (95% CI = 0.457-0.749), respectively. The association with MRI grading and LS-CS was moderate for foraminal stenosis and for the concomitant presence of foraminal and lateral recess stenosis, with Gi = 0.337 (95% CI 0.121-0.554) and Gi = 0.299 (95% CI 0.098-0.500), respectively. A weak association was found between lateral recess grading alone and LS-CS with Gi = 0.102 (95% CI 0.193-0.397). The new grading systems showed higher Gi for associations with clinical symptoms, compared with previous ones, both for CS-CS and LS-CS. CONCLUSIONS: A standardized visual grading system for lumbar spinal stenosis that takes into account all of the major contributing factors-including disc, arthritis, and lipomatosis, for the central canal, lateral recess, and neural foramina could be a useful and practical tool for defining the stenosis, lowering inter-observer variability, and directing the various treatment options.


Assuntos
Artrite , Lipomatose , Estenose Espinal , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Constrição Patológica , Reprodutibilidade dos Testes , Estenose Espinal/diagnóstico , Estenose Espinal/cirurgia , Imageamento por Ressonância Magnética , Variações Dependentes do Observador , Vértebras Lombares
12.
Pediatr Dermatol ; 41(1): 76-79, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37486073

RESUMO

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS-MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next-generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1-associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.


Assuntos
Oftalmopatias , Lipomatose , Síndromes Neurocutâneas , Humanos , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Lipomatose/diagnóstico , Lipomatose/genética , Lipomatose/terapia
13.
J Dermatol ; 51(1): 56-61, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37804078

RESUMO

Nevus lipomatosus cutaneous superficialis is a rare, benign hamartoma characterized by mature adipocyte proliferation in the dermis. It is frequently difficult to distinguish clinically from soft tissue tumors, including lipoma, neurofibroma, venous malformation, and angiolipoma. Notably, the classical form, which shows multiple and sometimes enlarged nodules, is difficult to differentiate from liposarcoma based on clinical examination, computed tomography, and magnetic resonance imaging findings. Therefore, to ascertain the utility of ultrasonography in diagnosing nevus lipomatosus cutaneous superficialis, sonographic examinations were performed on eight patients with nevus lipomatosus cutaneous superficialis. All patients had ill-defined hyperechoic masses in the dermis or from the dermis to the subcutis, and the posterior echoes were attenuated in seven patients. Color Doppler sonography revealed no blood flow to the lesions. Ultrasound images were created using the reflections of ultrasound waves at interfaces with different acoustic impedances. Therefore, it is assumed that, in nevus lipomatosus cutaneous superficialis, the ultrasound beam is scattered by ectopic mature adipocytes intermingled with collagen bundles, which are shown as hyperechoic masses. Furthermore, the scattering of the ultrasound beam is thought to reduce tissue penetration, which may attenuate the posterior echo.


Assuntos
Hamartoma , Lipomatose , Nevo , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Humanos , Lipomatose/diagnóstico por imagem , Lipomatose/patologia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Nevo/diagnóstico por imagem , Nevo/patologia
14.
J Radiol Case Rep ; 17(8): 49-56, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38090637

RESUMO

Lipomatosis of nerve, earlier known as fibrolipomatous hamartoma is a rare condition which predominantly affects peripheral nerves, cranial nerve involvement being extremely uncommon. Preoperative consideration of this entity is of paramount importance as its inadvertent complete surgical resection may inevitably result in significant neurological deficit. We report a case of trigeminal lipomatosis in a young patient with trigeminal neuralgia.


Assuntos
Hamartoma , Lipoma , Lipomatose , Neuralgia , Neuralgia do Trigêmeo , Humanos , Neuralgia do Trigêmeo/diagnóstico por imagem , Neuralgia do Trigêmeo/etiologia , Neuralgia do Trigêmeo/cirurgia , Lipomatose/complicações , Lipomatose/diagnóstico por imagem , Lipomatose/cirurgia , Hamartoma/complicações , Neuralgia/complicações , Nervo Trigêmeo
16.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 37(10): 1284-1291, 2023 Oct 15.
Artigo em Chinês | MEDLINE | ID: mdl-37848326

RESUMO

Objective: To review the clinical research progress of spinal epidural lipomatosis (SEL). Methods: The clinical studies on SEL at home and abroad in recent years were extensively reviewed, and the pathogenesis, clinical and imaging manifestations, and treatment status of SEL were summarized and analyzed. Results: SEL is a disease characterized by compression of the spinal cord and nerve roots due to abnormal accumulation of epidural adipose tissue in the spinal canal. Its prevalence and diagnosis rate are low and the pathogenesis is not fully understood. MRI is the most sensitive and specific diagnostic test for SEL. Surgical decompression and removal of excess adipose tissue are the only options for patients with acute SEL or those who have failed conservative management, and conservative management should be considered for other patients. Conclusion: SEL is a rare disease and related research still needs to be improved. In the future, high-quality, multi-center and large-sample studies will be of great significance for evaluating the choice of treatment methods and effectiveness of SEL patients.


Assuntos
Lipomatose , Doenças da Medula Espinal , Humanos , Descompressão Cirúrgica/métodos , Espaço Epidural/patologia , Espaço Epidural/cirurgia , Lipomatose/diagnóstico , Lipomatose/cirurgia , Imageamento por Ressonância Magnética , Doenças da Medula Espinal/cirurgia
17.
Medicine (Baltimore) ; 102(40): e35466, 2023 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-37800800

RESUMO

RATIONALE: Biportal endoscopic revision surgery for adjacent segmental disease (ASD) after lumbar arthrodesis is seldomly reported. Herein, we present 3 cases of ASD with radiculopathy wherein satisfactory results were obtained using unilateral biportal endoscopic (UBE) decompression. PATIENT CONCERNS: Case 1 was of a 56-year-old male who presented with a chief complaint of Intermittent claudication since 2-year. Case 2 involved a 78-year-old female who was admitted to the hospital with a chief complaint of radiating pain and weakness in the left leg for at least 1 year. Case 3 was a 67-year-old woman who visited our hospital because of radiating leg pain for 5 months. All the cases had a history of L4 to L5 lumbar interbody fusion surgery. DIAGNOSES: Computed tomography and magnetic resonance imaging showed the spinal epidural lipomatosis at the L3 to L4 level in case 1, the up-migrated lumbar disc herniation at L3 to L4 level in case 2 and unilateral foraminal stenosis at the L5 to S1 level in case 3. INTERVENTIONS: Under UBE guidance, the ipsilateral approach was used to treat adjacent lumbar stenosis caused by spinal epidural lipomatosis. The contralateral approach was used to remove the up-migrated herniated disc. The paraspinal approach was applied to decompress the foraminal stenosis. OUTCOMES: Postoperative parameters were improved clinically, and nerve roots were decompressed radiologically. No complications were developed. LESSONS: UBE revision surgery showed a favorable clinical and radiological result without complications and may be a safe and effective alternative technique for ASD.


Assuntos
Deslocamento do Disco Intervertebral , Lipomatose , Masculino , Feminino , Humanos , Idoso , Pessoa de Meia-Idade , Constrição Patológica , Endoscopia/métodos , Deslocamento do Disco Intervertebral/cirurgia , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Resultado do Tratamento
18.
Life Sci Alliance ; 6(12)2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37816584

RESUMO

Defects in ribosomal biogenesis profoundly affect organismal development and cellular function, and these ribosomopathies produce a variety of phenotypes. One ribosomopathy, Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, pancreatic exocrine insufficiency, and skeletal anomalies. SDS results from biallelic mutations in SBDS, which encodes a ribosome assembly factor. Some individuals express a missense mutation, SBDS R126T , along with the common K62X mutation. We reported that the sbds-null zebrafish phenocopies much of SDS. We further showed activation of Tp53-dependent pathways before the fish died during the larval stage. Here, we expressed SBDS R126T as a transgene in the sbds -/- background. We showed that one copy of the SBDS R126T transgene permitted the establishment of maternal zygotic sbds-null fish which produced defective embryos with cdkn1a up-regulation, a Tp53 target involved in cell cycle arrest. None survived beyond 3 dpf. However, two copies of the transgene resulted in normal development and lifespan. Surprisingly, neutropenia persisted. The surviving fish displayed suppression of female sex differentiation, a stress response in zebrafish. To evaluate the role of Tp53 in the pathogenesis of sbds -/- fish phenotype, we bred the fish with a DNA binding deficient allele, tp53 M214K Expression of the loss-of-function tp53 M214K did not rescue neutropenia or survival in sbds-null zebrafish. Increased expression of cdkn1a was abrogated in the tp53 M214K/M214K ;sbds -/- fish. We conclude that the amount of SBDSR126T protein is important for development, inactivation of Tp53 fails to rescue neutropenia or survival in the sbds-null background, and cdkn1a up-regulation was dependent on WT tp53 We hypothesize that additional pathways are involved in the pathophysiology of SDS.


Assuntos
Doenças da Medula Óssea , Lipomatose , Neutropenia , Animais , Feminino , Peixe-Zebra/genética , Lipomatose/genética , Lipomatose/metabolismo , Lipomatose/patologia , Doenças da Medula Óssea/genética , Doenças da Medula Óssea/metabolismo , Doenças da Medula Óssea/patologia , Proteínas/genética , Proteínas Nucleares/genética , Proteínas de Peixe-Zebra/genética
20.
Acta Neurochir (Wien) ; 165(11): 3479-3491, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37743433

RESUMO

BACKGROUND: In contrast to osteoligamentous lumbar stenosis (LSS), outcome of surgical treatment for spinal epidural lipomatosis (SEL) is still not well defined. We present risk factors for SEL and clinical long-term outcome data after surgical treatment for patients with pure SEL and a mixed-type pathology with combined SEL and LSS (SEL+LSS) compared to patients with pure LSS. METHODS: From our prospective institutional database, we identified all consecutive patients who were surgically treated for newly diagnosed SEL (n = 31) and SEL+LSS (n = 26) between 2018 and 2022. In addition, a matched control group of patients with pure LSS (n = 30) was compared. Microsurgical treatment aimed for posterior decompression of the spinal canal. Study endpoints were outcome data including clinical symptoms at presentation, MR-morphological analysis, evaluation of pain-free walking distance, pain perception by VAS-N/-R scales, and patient's satisfaction by determination of the Odom score. RESULTS: Patients with osteoligamentous SEL were significantly more likely to suffer from obesity (body mass index (BMI) of 30.2 ± 5.5 kg/m2, p = 0.03), lumbar pain (p = 0.006), and to have received long-term steroid therapy (p = 0.01) compared to patients with SEL+LSS and LSS. In all three groups, posterior decompression of the spinal canal resulted in significant improvement of these symptoms. Patients with SEL had a significant increase in pain-free walking distance during the postoperative course, at discharge, and last follow-up (FU) (p < 0.0001), similar to patients with SEL+LSS and pure LSS. In addition, patients with pure SEL and SEL+LSS had a significant reduction in pain perception, represented by smaller values of VAS-N and -R postoperatively and at FU, similar to patients with pure LSS. In uni- and multivariate analysis, domination of lumbar pain and steroid long-term therapy were significant characteristic risk factors for SEL. CONCLUSIONS: Surgical treatment of pure SEL and SEL+LSS allows significant improvement in pain-free walking distance and pain perception immediately postoperatively and in long-term FU, similar to patients with pure LSS.


Assuntos
Lipomatose , Dor Lombar , Estenose Espinal , Humanos , Estudos Prospectivos , Vértebras Lombares/cirurgia , Descompressão Cirúrgica/métodos , Estenose Espinal/cirurgia , Estenose Espinal/complicações , Dor Lombar/cirurgia , Constrição Patológica/cirurgia , Lipomatose/cirurgia , Esteroides , Resultado do Tratamento
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