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1.
BMJ Case Rep ; 15(4)2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35414579

RESUMO

Millard-Gubler syndrome (MGS) is a ventral pontine syndrome due to an ipsilateral involvement of abducens and facial nerve with a contralateral hemiparesis or hemiplegia. Although classically described as a vascular brainstem syndrome, various other aetiologies such as infection or demyelination may lead to MGS. In this case, a young female presented with MGS, which was attributed to a strategically located infective granuloma of the brainstem. In countries, where tuberculosis is still considered an endemic, central nervous system involvement due to tuberculosis may have protean manifestations.


Assuntos
Infartos do Tronco Encefálico , Paralisia Facial , Infartos do Tronco Encefálico/complicações , Nervo Facial , Paralisia Facial/etiologia , Feminino , Hemiplegia/etiologia , Humanos , Ponte/patologia
2.
AJNR Am J Neuroradiol ; 43(5): 707-714, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35393362

RESUMO

BACKGROUND AND PURPOSE: Imaging biomarkers derived from different brainstem structures are suggested to differentiate among parkinsonian disorders, but clinical implementation requires normative data. The main objective was to establish high-quality, sex-specific data for relevant brainstem structures derived from MR imaging in healthy subjects from the general population in their sixth and seventh decades of life. MATERIALS AND METHODS: 3D T1WI acquired on the same 1.5T scanner of 996 individuals (527 women) between 50 and 66 years of age from a prospective population study was used. The area of the midbrain and pons and the widths of the middle cerebellar peduncles and superior cerebellar peduncles were measured, from which the midbrain-to-pons ratio and Magnetic Resonance Parkinsonism Index [MRPI = (Pons Area / Midbrain Area) × (Middle Cerebellar Peduncles / Superior Cerebellar Peduncles)] were calculated. Sex differences in brainstem measures and correlations to age, height, weight, and body mass index were investigated. RESULTS: Inter- and intrareliability for measuring the different brainstem structures showed good-to-excellent reliability (intraclass correlation coefficient = 0.785-0.988). There were significant sex differences for the pons area, width of the middle cerebellar peduncles and superior cerebellar peduncles, midbrain-to-pons ratio, and MRPI (all, P < .001; Cohen D = 0.44-0.98), but not for the midbrain area (P = .985). There were significant very weak-to-weak correlations between several of the brainstem measures and age, height, weight, and body mass index in both sexes. However, no systematic difference in distribution caused by these variables was found, and because age had the highest and most consistent correlations, age-/sex-specific percentiles for the brainstem measures were created. CONCLUSIONS: We present high-quality, sex-specific data and age-/sex-specific percentiles for the mentioned brainstem measures. These normative data can be implemented in the neuroradiologic work-up of patients with suspected brainstem atrophy to avoid the risk of misdiagnosis.


Assuntos
Doença de Parkinson , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética , Masculino , Mesencéfalo/diagnóstico por imagem , Mesencéfalo/patologia , Doença de Parkinson/patologia , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/patologia , Ponte/diagnóstico por imagem , Ponte/patologia , Estudos Prospectivos , Reprodutibilidade dos Testes , Paralisia Supranuclear Progressiva/diagnóstico por imagem , Paralisia Supranuclear Progressiva/patologia
3.
World Neurosurg ; 159: 348-361, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35255634

RESUMO

BACKGROUND: The decision-making process surrounding resection of arteriovenous malformations (AVMs) in proximity to vital brainstem structures is a complex topic. Intricate vasculature in the setting of exquisite brainstem eloquence creates a high-risk operative landscape with the potential for devastating complications. Effective resections are driven by mastery of the relevant operative anatomy, preservation of pertinent vasculature, and technical experience and acumen. METHODS: This article provides a narrative literature review on the resection of brainstem AVMs. RESULTS: Operative anatomy and approaches to AVMs of the midbrain (anterior/posterior), pons (anterior/lateral), and medulla (anterior/lateral) are discussed herein, with a focus on pearls and pitfalls for minimizing complications during resection. CONCLUSIONS: Careful consideration of the patient's clinical background, the natural history of the lesion, and expertise of the treating surgeon are paramount for improving the natural course of brainstem AVMs.


Assuntos
Embolização Terapêutica , Malformações Arteriovenosas Intracranianas , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/patologia , Tronco Encefálico/cirurgia , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/patologia , Malformações Arteriovenosas Intracranianas/cirurgia , Microcirurgia , Ponte/diagnóstico por imagem , Ponte/cirurgia , Resultado do Tratamento
4.
Development ; 149(5)2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-35262177

RESUMO

Axonal projections from layer V neurons of distinct neocortical areas are topographically organized into discrete clusters within the pontine nuclei during the establishment of voluntary movements. However, the molecular determinants controlling corticopontine connectivity are insufficiently understood. Here, we show that an intrinsic cortical genetic program driven by Nr2f1 graded expression is directly implicated in the organization of corticopontine topographic mapping. Transgenic mice lacking cortical expression of Nr2f1 and exhibiting areal organization defects were used as model systems to investigate the arrangement of corticopontine projections. By combining three-dimensional digital brain atlas tools, Cre-dependent mouse lines and axonal tracing, we show that Nr2f1 expression in postmitotic neurons spatially and temporally controls somatosensory topographic projections, whereas expression in progenitor cells influences the ratio between corticopontine and corticospinal fibres passing the pontine nuclei. We conclude that cortical gradients of area-patterning genes are directly implicated in the establishment of a topographic somatotopic mapping from the cortex onto pontine nuclei.


Assuntos
Mapeamento Encefálico , Ponte , Animais , Axônios , Córtex Cerebral , Camundongos , Vias Neurais/fisiologia , Neurônios , Ponte/fisiologia
6.
Neurol India ; 70(1): 355-358, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35263913

RESUMO

Background: "Thirteen-and-a-half" is a newly described clinical syndrome characterized by the combination of the one-and-a-half syndrome with fifth and seventh cranial nerve nuclei involvement (11/2 + 5 + 7 = 131/2). To the authors' knowledge, this is the first report of the thirteen-and-a-half syndrome secondary to pontine cavernoma and, overall, only the second reported case of this syndrome in the literature till date. Case Report: A 20-year-old man presented with the clinical features suggestive of the thirteen-and-a-half syndrome, explained radiologically by pontine cavernoma. We operated him using a suboccipital transvermian approach and he is doing well at 2.5 years follow-up. Interestingly, his one-and-a-half syndrome has partially improved to left horizontal gaze palsy. Conclusion: The clinical appreciation of the thirteen-and-a-half syndrome precisely localizes the lesion to ipsilateral dorsal pontine tegmentum. Neurosurgeons must be aware of the newly described "one-and-a-half- plus" syndromes as they help in a better understanding of pathoanatomy caused by different disease processes in the brainstem.


Assuntos
Hemangioma Cavernoso , Estrabismo , Adulto , Tronco Encefálico/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Humanos , Masculino , Ponte/diagnóstico por imagem , Ponte/patologia , Síndrome , Adulto Jovem
7.
Neurol India ; 70(1): 405-408, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35263929

RESUMO

CLIPPERS is a rare subacute inflammatory disorder of the CNS, with a poorly understood pathogenesis and with heterogeneous clinical manifestations. Reports of extra-pontine involvement in this syndrome are rare, and as far as we know there are only two cases reported with simultaneous involvement of the CNS and pulmonary parenchyma. We report the case of a young patient with a subacute condition of cognitive dysfunction, as well as motor, sensory and balance changes. Imaging showed pontine and extrapontine brain involvement in association with multiple pulmonary nodules, characterizing a very unusual presentation of this syndrome. It is important for radiologists to be aware of that rare presentation in order to make a prompt diagnosis of this condition, enabling early treatment and avoiding permanent neurological sequelae.


Assuntos
Imageamento por Ressonância Magnética , Ponte , Encéfalo/patologia , Humanos , Inflamação/diagnóstico , Ponte/diagnóstico por imagem , Ponte/patologia , Esteroides/uso terapêutico
8.
BMJ Case Rep ; 15(3)2022 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-35292545

RESUMO

Hiccups are experienced by people of all ages. While acute hiccups are benign and self-limited, persistent and intractable hiccups can sometimes signal a serious disease. We present a young previously healthy man who complained of only hiccups for 4 months and later developed a severe headache and projectile vomiting. His systemic examination was within normal limits. Brain imaging revealed a diffuse pontine glioma with mild hydrocephalus.


Assuntos
Glioma , Soluço , Encéfalo , Glioma/complicações , Glioma/diagnóstico por imagem , Soluço/etiologia , Humanos , Masculino , Ponte/diagnóstico por imagem
9.
Neurology ; 98(16): 669-673, 2022 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-35210293

RESUMO

Conjugate deviation of the eyes toward side of lesion was recognized over a century ago as a manifestation accompanying hemiplegia, usually of apoplectic origin. While working on the services of Alfred Vulpian and Jean-Martin Charcot, Jean-Louis Prévost sparked international interest in the neurologic sign later named after him. His 1868 thesis represents the first systematic case series of patients with this ocular sign, observed in conjunction with head rotation toward the nonparalyzed side, which he called conjugate deviation (CD) of the eyes. Within a decade, it was uniformly reported in both French and English medical literature. Ipsilesional deviation was the rule for cortical or subcortical paralytic lesions. Contralesional deviation, more rarely seen, signaled lesions of lower brain regions, particularly pontine, or indicated irritative, excitatory effects (as in Jacksonian epilepsy). The sign was recognized to be a valuable diagnostic aid in unilateral cerebral lesions. Centralized control of CD by specific cerebral sites, such as frontal, or occipital, or oculomotor centers, was explored, along with the complex relationship with hemineglect, which interestingly was reported only several decades later. The discovery of intricate oculomotor interconnections and self-space relationships, which play an essential role in CD, owes much to Prévost and his followers.


Assuntos
Estrabismo , Encéfalo , Olho , Movimentos Oculares , Humanos , Masculino , Ponte
10.
Front Neural Circuits ; 16: 784396, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35185479

RESUMO

In the mammalian brain, auditory brainstem nuclei are arranged topographically according to acoustic frequency responsiveness. During postnatal development, the axon initial segment (AIS) of principal neurons undergoes structural refinement depending on location along the tonotopic axis within the medial nucleus of the trapezoid body (MNTB). However, the molecular mechanisms underlying the structural refinement of the AIS along the tonotopic axis in the auditory brainstem have not been explored. We tested the hypothesis that brain-derived neurotrophic factor (BDNF) is a molecular mediator of the structural development of the MNTB in an activity-dependent manner. Using BDNF heterozygous mutant (BDNF+/- ) mice, we examined the impact of global BDNF reduction on structural and functional development of MNTB neurons by assessing AIS structure and associated intrinsic neuronal properties. BDNF reduction inhibits the structural and functional differentiation of principal neurons along the tonotopic axis in the MNTB. Augmented sound input during the critical period of development has been shown to enhance the structural refinement of the AIS of MNTB neurons. However, in BDNF +/- mice, MNTB neurons did not show this activity-dependent structural modification of the AIS following repeated sound stimulation. In addition, BDNF+/- mice lacked a defined isofrequency band of neuronal activity following exposure to 16 kHz sound, suggesting degradation of tonotopy. Taken together, structural development and functional refinement of auditory brainstem neurons require physiological levels of BDNF to establish proper tonotopic gradients.


Assuntos
Corpo Trapezoide , Animais , Vias Auditivas/fisiologia , Fator Neurotrófico Derivado do Encéfalo/metabolismo , Mamíferos/metabolismo , Camundongos , Neurônios/fisiologia , Ponte , Corpo Trapezoide/fisiologia
11.
G Ital Cardiol (Rome) ; 23(1): 63-74, 2022 Jan.
Artigo em Italiano | MEDLINE | ID: mdl-34985464

RESUMO

BACKGROUND: Patients who suffered from acute coronary syndrome (ACS) need a tight follow-up in order to optimize therapy and prevent adverse events. The aim of the PONTE-SCA Puglia program was to evaluate the impact of an integrated management of patients between hospital and local territorial outpatient facilities on adherence and outcome of patients discharged after ACS event. METHODS: This was a prospective, longitudinal, cohort study which enrolled patients who suffered ACS and/or coronary revascularization in a Hub hospital of ASL Bari. Patients underwent clinical and laboratory evaluation at 30 days, 3 months, 6 months, and 1 year after the index event. The following endpoints were considered: all-cause mortality, ACS recurrence/cardiac ischemia/angina, restenosis/intrastent thrombosis, stroke/transient ischemic attack, heart failure, all-cause bleeding. We evaluated persistence on therapies and the percentage of patients who attained therapeutic goals. RESULTS: A total of 2476 patients (mean age 67.2 ± 12.0 years, 77.4% male) were enrolled. At 1-year follow-up, 99.5% of patients (p<0.05) were on statin therapy, 16.1% (p<0.01) on ezetimibe, and 9.9% (p<0.01) on proprotein convertase subtilisin/kexin type 9 inhibitors. All-cause mortality was 3.1% at 1-year follow-up, whereas recurrence of ACS/cardiac ischemia/angina and restenosis/stent thrombosis were 3% and 1.3%, respectively. The prevalence of all bleeding complications was 2.2%. CONCLUSIONS: The PONTE-SCA Puglia program allowed to implement a dedicated taking in charge of patients after an ACS/coronary revascularization event, to manage a dedicated follow-up route for them, to ameliorate persistence on recommended therapies, and to keep lower the incidence of major adverse cardiovascular events and bleedings.


Assuntos
Síndrome Coronariana Aguda , Síndrome Coronariana Aguda/terapia , Idoso , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Ponte , Estudos Prospectivos , Resultado do Tratamento
12.
J Comp Neurol ; 530(5): 817-833, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34587295

RESUMO

Both birds and mammals have relatively large forebrains and cerebella. In mammals, there are extensive sensory-motor projections to the cerebellum through the pontine nuclei originating from several parts of the cerebral cortex. Similar forebrain-to-cerebellum pathways exist in birds, but the organization of this circuitry has not been studied extensively. Birds have two nuclei at the base of the brainstem that are thought to be homologous to the pontine nuclei of mammals, the medial and lateral pontine nuclei (PM, PL). Additionally, birds are unique in that they have a pretectal nucleus called the medial spiriform nucleus (SpM) that, like the pontine nuclei, also receives projections from the forebrain and projects to the oculomotor cerebellum (OCb; folia VI to VIII). The OCb also receives input from the pretectal nucleus lentiformis mesencephali (LM), which analyzes visual optic flow information resulting from self-movement. In this study, we used single or double injections of fluorescent tracers to study the organization of these inputs from PM, PL, SpM and LM to the OCb in pigeons. We found that these inputs follow a zonal organization. The most medial zone in the OCb, zone A1, receives bilateral inputs from the lateral SpM, PL and LM. Zones A2 and C receive a bilateral projection from the medial SpM, and a mostly contralateral projection from PM and LM. We discuss how the pathway to zone A1 processes mainly visuo-motor information to spinal premotor areas, whereas the pathways to zone A2/C processes somato-motor and visuo-motor information and may have a feedback/modulatory role.


Assuntos
Cerebelo/anatomia & histologia , Columbidae/anatomia & histologia , Ponte/anatomia & histologia , Animais , Vias Neurais/anatomia & histologia
13.
Acta Neurochir (Wien) ; 164(3): 763-766, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34643805

RESUMO

BACKGROUND: The horizontal fissure approach is a workhorse for brainstem lesions in the central and dorsolateral pons and middle cerebellar peduncle (MCP). The cerebellopontine fissure is a V-shaped fissure with a superior and inferior limb between the cerebellum, pons, and MCP. The horizontal or petrosal fissure is at the apex of the cerebellopontine fissure and extends laterally to divide the petrosal surface of the cerebellum into superior and inferior parts. Splitting this fissure exposes the posterolateral aspect of the MCP without excessive retraction or transgression of the cerebellum. METHOD: We demonstrate and describe the horizontal fissure operative approach to the middle cerebellar peduncle for resection of a pontine cavernoma with illustrative figures and operative video. CONCLUSION: Splitting the horizontal (petrosal) fissure of the cerebellum brings the middle cerebellar peduncle into view behind the root entry zone of the trigeminal nerve, providing an expanded, safe corridor to the central and dorsolateral pons.


Assuntos
Hemangioma Cavernoso , Pedúnculo Cerebelar Médio , Cerebelo/cirurgia , Humanos , Ponte/diagnóstico por imagem , Ponte/cirurgia , Nervo Trigêmeo
14.
Neurosurg Rev ; 45(2): 1363-1370, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34546449

RESUMO

Surgery of the brainstem is challenging due to the complexity of the area with cranial nerve nuclei, reticular formation, and ascending and descending fibers. Safe entry zones are required to reach the intrinsic lesions of the brainstem. The aim of this study was to provide detailed measurements for anatomical landmark zones of the ventrolateral surface of the human brainstem related to previously described safe entry zones. In this study, 53 complete and 34 midsagittal brainstems were measured using a stainless caliper with an accuracy of 0.01 mm. The distance between the pontomesencephalic and bulbopontine sulci was measured as 26.94 mm. Basilar sulcus-lateral side of pons (origin of the fibers of the trigeminal nerve) distance was 17.23 mm, transverse length of the pyramid 5.42 mm, and vertical length of the pyramid 21.36 mm. Lateral mesencephalic sulcus was 12.73 mm, distance of the lateral mesencephalic sulcus to the oculomotor nerve 13.85 mm, and distance of trigeminal nerve to the upper tip of pyramid 17.58 mm. The transverse length for the inferior olive at midpoint and vertical length were measured as 5.21 mm and 14.77 mm, consequently. The thickness of the superior colliculus was 4.36 mm, and the inferior colliculus 5.06 mm; length of the tectum was 14.5 mm and interpeduncular fossa 11.26 mm. Profound anatomical knowledge and careful analysis of preoperative imaging are mandatory before surgery of the brainstem lesions. The results presented in this study will serve neurosurgeons operating in the brainstem region.


Assuntos
Tronco Encefálico , Ponte , Tronco Encefálico/anatomia & histologia , Nervos Cranianos , Humanos , Bulbo/cirurgia , Ponte/cirurgia , Nervo Trigêmeo/cirurgia
15.
J Clin Sleep Med ; 18(3): 945-948, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-34728051

RESUMO

Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia typically associated with synucleinopathy and evolving to neurodegenerative disorders. RBD is caused by impairment of brainstem nuclei controlling REM sleep muscle atonia. Rarely, focal lesions of the brainstem can cause secondary RBD. We present the case of a 74-year-old patient, previously evaluated at age 70 years for insomnia and periodic limb movements during sleep, who then rapidly developed unpleasant dreams with minor motor behavior, affecting his sleep quality. Polysomnography recorded REM sleep without atonia and motor behaviors in REM sleep. Ischemic lesions in the pons were detected by magnetic resonance imaging. Clinical, biological, and instrumental biomarkers of neurodegeneration were repeatedly negative at 2 years' follow-up. Although rare, a lesional cause of RBD must be considered in cases of atypical presentation and without evidence of neurodegeneration. The complaint of unpleasant dreams suggests a possible role of brainstem nuclei controlling REM sleep atonia in affecting oneiric content. CITATION: Biscarini F, Montini A, Antelmi E, Vandi S, Pizza F, Plazzi G. REM sleep behavior disorder with predominant nightmares in a patient with ischemic pontine lesions. J Clin Sleep Med. 2022;18(3):945-948.


Assuntos
Transtorno do Comportamento do Sono REM , Idoso , Sonhos , Humanos , Polissonografia/métodos , Ponte/diagnóstico por imagem , Ponte/patologia , Transtorno do Comportamento do Sono REM/complicações , Sono REM/fisiologia
16.
Brain Struct Funct ; 227(1): 361-379, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34665323

RESUMO

The basal ganglia and pontocerebellar systems regulate somesthetic-guided motor behaviors and receive prominent inputs from sensorimotor cortex. In addition, the claustrum and thalamus are forebrain subcortical structures that have connections with somatosensory and motor cortices. Our previous studies in rats have shown that primary and secondary somatosensory cortex (S1 and S2) send overlapping projections to the neostriatum and pontine nuclei, whereas, overlap of primary motor cortex (M1) and S1 was much weaker. In addition, we have shown that M1, but not S1, projects to the claustrum in rats. The goal of the current study was to compare these rodent projection patterns with connections in cats, a mammalian species that evolved in a separate phylogenetic superorder. Three different anterograde tracers were injected into the physiologically identified forepaw representations of M1, S1, and S2 in cats. Labeled fibers terminated throughout the ipsilateral striatum (caudate and putamen), claustrum, thalamus, and pontine nuclei. Digital reconstructions of tracer labeling allowed us to quantify both the normalized distribution of labeling in each subcortical area from each tracer injection, as well as the amount of tracer overlap. Surprisingly, in contrast to our previous findings in rodents, we observed M1 and S1 projections converging prominently in striatum and pons, whereas, S1 and S2 overlap was much weaker. Furthermore, whereas, rat S1 does not project to claustrum, we confirmed dense claustral inputs from S1 in cats. These findings suggest that the basal ganglia, claustrum, and pontocerebellar systems in rat and cat have evolved distinct patterns of sensorimotor cortical convergence.


Assuntos
Córtex Motor , Animais , Gatos , Claustrum , Neostriado , Vias Neurais , Filogenia , Ponte , Ratos , Córtex Somatossensorial , Tálamo
17.
Transl Stroke Res ; 13(2): 238-244, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34415564

RESUMO

Pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease. We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6 years. Neuroimaging, whole-exome sequencing, skin biopsy, and pedigree analysis were performed. She initially presented with minor head injury at age 38. MRI brain showed chronic lacunar infarcts in the pons, left thalamus, and right centrum semiovale. Extensive workup was unremarkable except for a patent foramen ovale (PFO). Despite anticoagulation, PFO closure, and antiplatelet therapy, the patient had recurrent lacunar infarcts in the pons and deep white matter, as well as subcortical microhemorrhages. Whole-exome sequencing demonstrated a novel c.*34G > T mutation in the 3' untranslated region of COL4A1 gene. Skin biopsy subsequently demonstrated thickening of vascular basement membrane, proliferation of endothelial cells, and stenosis of vascular lumen. Three additional family members had gene testing and 2 of them were found to have the same heterozygous mutation. Of the 18 individuals in the pedigree of 3 generations, 12 had clinical and MRI evidence of PADMAL. The mechanisms of both ischemic and hemorrhagic stroke are likely the overexpression of COLT4A1 in the basement membrane and frugality of the vessel walls. Our findings suggest that the novel c.*34G > T mutation appears to have the same functional consequences as the previously reported COL4A1 gene mutations in patients with PADMAL and multi-infarct dementia of Swedish type.


Assuntos
Leucoencefalopatias , Acidente Vascular Cerebral Lacunar , Adulto , Artrogripose , China , Colágeno Tipo IV/genética , Células Endoteliais , Feminino , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Mutação/genética , Ponte
18.
Brain Dev ; 44(1): 73-76, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34400011

RESUMO

Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid conditions. Anatomical anomalies of the brainstem are assumed to be major etiologies of MBS. Its phenotypic presentation can be variable. We report a female patient with MBS who presented with neurogenic bladder (NB). She was born via normal vaginal delivery. At birth, she showed bilateral abducens palsy and right facial palsy. We diagnosed MBS by cranial computed tomography scan and magnetic resonance imaging. She had recurrent urinary tract infection. Hydronephrosis was noted on ultrasonography and bilateral vesicoureteral reflux (grade 5) on voiding cystourethrography. Urodynamic investigation showed detrusor overactivity and detrusor-sphincter dyssynergia, which follow the pattern of NB resulting from infrapontine-suprasacral lesions. Patients with MBS have lower brainstem dysfunction, and accordingly we should be aware of NB.


Assuntos
Síndrome de Möbius/complicações , Síndrome de Möbius/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Möbius/patologia , Síndrome de Möbius/fisiopatologia , Ponte/patologia , Ponte/fisiopatologia , Urodinâmica
19.
J Laryngol Otol ; 136(3): 208-214, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34405776

RESUMO

OBJECTIVE: Magnetic resonance imaging utilising non-echo planar diffusion-weighted imaging is known to have high sensitivity and specificity in detecting cholesteatoma. METHOD: Data was retrospectively collected from patients who had undergone non-echo planar diffusion-weighted imaging from 1 January 2010 to 31 December 2016. The ratio of average pixel grey-scale values between the middle-ear lesion, pons and temporal lobe was used to quantify the degree of restricted diffusion and assess the statistical significance to detect cholesteatoma. RESULTS: A total of 107 patients had non-echo planar diffusion-weighted imaging during the study period. Non-echo planar diffusion-weighted imaging shows good specificity and sensitivity with an excellent positive predictive value and accuracy. Analysis of the grey-scale pixel ratio for cholesteatoma detection showed statistically significant results. CONCLUSION: Non-echo planar diffusion-weighted magnetic resonance imaging is accurate for cholesteatoma assessment. When the middle-ear lesion non-echo planar diffusion-weighted imaging intensity is higher than the ipsilateral temporal lobe, it is highly suggestive of a cholesteatoma formation.


Assuntos
Colesteatoma da Orelha Média/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Adulto , Idoso , Colesteatoma da Orelha Média/patologia , Colesteatoma da Orelha Média/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ponte/diagnóstico por imagem , Valor Preditivo dos Testes , Curva ROC , Estudos Retrospectivos , Lobo Temporal/diagnóstico por imagem , Adulto Jovem
20.
Blood ; 139(12): 1785-1793, 2022 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-34192312

RESUMO

Comparison of treatment strategies in de novo pediatric acute lymphoblastic leukemia (ALL) requires standardized measures of efficacy. Key parameters that define disease-related events, including complete remission (CR), treatment failure (TF; not achieving CR), and relapse (loss of CR) require an updated consensus incorporating modern diagnostics. We collected the definitions of CR, TF, and relapse from recent and current pediatric clinical trials for the treatment of ALL, including the key components of response evaluation (timing, anatomic sites, detection methods, and thresholds) and found significant heterogeneity, most notably in the definition of TF. Representatives of the major international ALL clinical trial groups convened to establish consensus definitions. CR should be defined at a time point no earlier than at the end of induction and should include the reduction of blasts below a specific threshold in bone marrow and extramedullary sites, incorporating minimal residual disease (MRD) techniques for marrow evaluations. TF should be defined as failure to achieve CR by a prespecified time point in therapy. Relapse can only be defined in patients who have achieved CR and must include a specific threshold of leukemic cells in the bone marrow confirmed by MRD, the detection of central nervous system leukemia, or documentation of extramedullary disease. Definitions of TF and relapse should harmonize with eligibility criteria for clinical trials in relapsed/refractory ALL. These consensus definitions will enhance the ability to compare outcomes across pediatric ALL trials and facilitate development of future international collaborative trials.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras , Criança , Consenso , Humanos , Neoplasia Residual/diagnóstico , Ponte , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Recidiva , Indução de Remissão , Falha de Tratamento
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