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Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
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Doenças do Desenvolvimento Ósseo/fisiopatologia , Filaminas/genética , Dedos/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Deformidades Congênitas dos Membros/fisiopatologia , Osteocondrodisplasias/fisiopatologia , Transtornos da Pigmentação/fisiopatologia , Pele/fisiopatologia , Dedos do Pé/anormalidades , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Pré-Escolar , Feminino , Dedos/diagnóstico por imagem , Dedos/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mãos/fisiopatologia , Humanos , Hipopigmentação/diagnóstico por imagem , Hipopigmentação/genética , Hipopigmentação/fisiopatologia , Lactente , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/genética , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Fenótipo , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/diagnóstico por imagem , Transtornos da Pigmentação/genética , Dedos do Pé/diagnóstico por imagem , Dedos do Pé/fisiopatologia , Turquia/epidemiologiaRESUMO
PURPOSE: Magnetic resonance (MRI) is a valuable imaging method which can detect pre-operative rotator cuff tear characteristics accurately. However, tendon degeneration almost always necessitates a certain amount of debridement during arthroscopic repair, which alters tear size and shape. The aim of this study is to question the accuracy of the pre-operative tear size and classification in MRI and its relation to the tear size and type of the debrided tendon during arthroscopic repair. METHODS: A retrospective survey was performed to identify shoulders that underwent arthroscopic rotator cuff repair. Rotator cuff tears with an adequate history, a standard pre-operative MRI, and available surgical video records with appropriate measurements were included. Traumatic tears, calcifying tendonitis, isolated subscapularis tears, and revisions were excluded. In total, 60 shoulders' (30 males, 27 females; age 55.2 [35-73]) preoperative MRIs and intra-operative measurements were analyzed by orthopaedic surgeons and radiologists. Tear width and type were recorded. Interdisciplinary and intradisciplinary consistency of measurements and classifications were analyzed. Tear width measured on pre-operative MRI and after debridement were compared. RESULTS: Average measured tear width was 9 ± 5.3 mm on MRI. Surgeons (9.98 ± 4.6 mm) measured tears significantly wider than radiologists (7.71 ± 6.6 mm). Radiologists (ICC, 0.930; CI, 0.883-0.959) showed superior consistency on MRI than surgeons (CI, 0.502; CI, 0.105-0.726). Average tear width measured after debridement (29.3 ± 9.6 mm) was significantly higher than tear width measured on pre-operative MRI (p < 0.0001). None of the researchers assessing tear type on pre-operative MRI showed agreement with surgeons assessing intra-operative data. CONCLUSIONS: There were significant differences between the pre-operative tear characteristics on MRI and the debrided tendon characteristics during surgery, which were extensive enough to classify the tear in a different category.
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Imageamento por Ressonância Magnética , Lesões do Manguito Rotador/diagnóstico por imagem , Lesões do Manguito Rotador/cirurgia , Manguito Rotador/diagnóstico por imagem , Manguito Rotador/cirurgia , Adulto , Idoso , Artroscopia , Desbridamento , Feminino , Humanos , Período Intraoperatório , Masculino , Pessoa de Meia-Idade , Período Pré-Operatório , Estudos RetrospectivosRESUMO
PURPOSE: Venous outflow impediment is increasingly recognized in idiopathic intracranial hypertension (IIH). We aim to search for the value of tortuous occipital emissary vein (OEV) in IIH by integrating measurable transverse sinus (TS) stenosis in contrast-enhanced MR venography (CE-MRV). METHODS: Twenty-one IIH patients were evaluated with CE-MRV. Each patient had high LP opening pressure (> 25 cm.H2O), and presented papilledema. Age- and sex-matched 21 control subjects who underwent cranial CE-MRV were selected. The OEV and the following features: intraosseous diameter of more than 3 mm, twisted course, and continuous with prominent sub-occipital extracranial veins were named tortuous OEV. TS stenosis was measured by utilizing the coronal T1-VIBE series to calculate quantitative metrics such as TS max./min.. The tortuous OEV and TS max./min. were registered to create a bivariate logistic regression model to assess the performance of tortuous OEV for IIH when accompanied by TS stenosis. RESULTS: Six (29%) tortuous OEVs were observed in the IIH group, while no tortuous OEV was identified in the control group (p = 0.021). The mean TSmax./min. was 2.48 ± 1.19 in patients with IIH and 1.23 ± 0.33 in the control group (p < 0.001). According to regression analysis, tortuous OEV is not predictive of IIH (p = 0.999), while the higher TSmax./min. (> 1.69) is predictive of IIH (p = 0.022, OR: 8.9; %95 CI; 1.4-59.0) when accompanied together. CONCLUSION: Tortuous occipital emissary vein is more frequently seen in patients with IIH. However, the tortuous appearance alone does not predict idiopathic intracranial hypertension unless associated with measurable transverse sinus narrowing in CE-MRV.
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AIM: As only a limited number of studies have used diffusion-weighted imaging (DWI) and conventional magnetic resonance imaging (MRI) in patients with ulnar neuropathy at the elbow (UNE), the present study aimed to investigate the diagnostic value of the non-invasive DWI technique in patients with UNE. METHODS: A total of 26 elbows in 19 healthy controls (age range: 22-56 years) with no symptoms and 24 elbows in 21 symptomatic patients (age range: 21-46 years) with cubital tunnel syndrome underwent DWI. The electrophysiological and clinical criteria for the diagnosis of UNE were examined. RESULTS: No pathological signal from the ulnar nerve was detected in the healthy controls, whereas there was an increase in signals on DWI in all patients with UNE. On T2-weighted (T2W) imaging, there was increased signal intensity in 20 elbows, while low signal intensity was observed in the remaining four. A positive correlation was found between disease duration and presence of hyperintensity (P=0.044, r=0.42) on T2W images. CONCLUSION: DWI can be used together with electrophysiological methods for the diagnosis of UNE. Furthermore, DWI might be preferred in some cases, as it is non-invasive compared with the electrophysiological method for UNE diagnosis.
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Técnicas de Diagnóstico Neurológico , Eletrodiagnóstico/métodos , Imageamento por Ressonância Magnética/métodos , Síndromes de Compressão do Nervo Ulnar/diagnóstico , Síndromes de Compressão do Nervo Ulnar/fisiopatologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Estatística como Assunto , Adulto JovemRESUMO
PURPOSE We aimed to demonstrate the feasibility of ultrasound (US)-guided retrograde tibial access through chronically occluded tibial arteries as a bailout endovascular recanalization procedure in patients with critical limb ischemia (CLI). METHODS Fifty-one CLI patients with failed conventional antegrade tibiopedal recanalization required retrograde tibiopedal access in the same session. In all of these patients, the target tibial artery was chronically occluded in at least the distal half of the cruris. Access attempts were made under real-time US by a single operator experienced in image-guided vascular access procedures. Fluoroscopy was used only as an adjunct during advancement of a 0.018 inch guidewire. If access to the artery was successful by the retrograde route, the occluded artery was usually predilated with a 2 mm balloon, and the standard endovascular treatment was mostly performed through the antegrade route. RESULTS Patients had athereosclerosis (n=35) or Buerger's disease (n=32) and presented with Rutherford category IV and category V. Successful placement of a guidewire in the occluded artery lumen was achieved in 81% of all patients, whereas, treatment success, i.e. angiographic demonstration of in-line flow at the end of procedure, was achieved in 49%. No significant procedure-related complications were observed. Of 33 limbs with initially successful endovascular treatment, 6 required minor and 1 required major amputation during follow-up. CONCLUSION US-guided retrograde access through completely occluded tibial arteries is difficult but feasible. Half of the tibial arteries that could not be recanalized otherwise were converted to successful recanalization by this method.
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Arteriopatias Oclusivas , Procedimentos Endovasculares , Doença Arterial Periférica , Humanos , Artérias da Tíbia/diagnóstico por imagem , Isquemia/diagnóstico por imagem , Isquemia/cirurgia , Resultado do Tratamento , Arteriopatias Oclusivas/terapia , Ultrassonografia de Intervenção , Procedimentos Endovasculares/métodos , Doença Arterial Periférica/terapia , Estudos Retrospectivos , Grau de Desobstrução Vascular , Salvamento de MembroRESUMO
Here we report a challenging case of a 52-year-old man presenting with subacute constipation, urinary retention, impotence, absent Achilles reflexes, and hypoesthesia in S2-S5 dermatomes. We review the clinical decision-making as the symptoms evolved and diagnostic testing changed over time. Once the diagnosis is settled, we discuss the sign and symptoms, additional diagnostic tools, treatment options and prognosis.
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BACKGROUND: Intrathyroidal ectopic thymus (IET) can be misdiagnosed as thyroid nodules. PURPOSE: The purpose of this study is to evaluate the sonoelastographic findings of IET in pediatric population. METHODS: Twelve children who had been examined with ultrasound (US) and strain elastography between December 2012 and December 2019 were included in this retrospective study. The patients' demographics and ultrasonographic findings, including the location, margin, shape, diameters, volume, structure, vascularity, and elastography values of the lesions were evaluated. RESULTS: Twelve lesions were detected in 12 asymptomatic patients (3 females and 9 males) with a mean age of 4.67 ± 2.27 years. The most common location of the IET was in posterior part and middle third of thyroid, and the most common appearance on US was a well-defined, ovoid-shaped, and predominantly hypoechoic solid lesion with punctate/linear branching hyperechogenities. The lesions were mostly hypovascular on Doppler US. The mean strain ratio on elastography was found to be 1.10 ± 0.04. In the follow-up of 7 patients with available information, there was no significant change in size or appearance of IET on US. CONCLUSION: IET should be considered in the differential diagnosis of the lesions within the thyroid. The first step to accurately diagnose an IET is to consider it in the differential diagnosis. In addition to US, strain elastography findings can be used to distinguish IETs from papillary thyroid cancers which can have similar US appearance, and help avoid unnecessary biopsies.
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Coristoma , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Criança , Pré-Escolar , Coristoma/diagnóstico por imagem , Feminino , Humanos , Masculino , Estudos Retrospectivos , Nódulo da Glândula Tireoide/diagnóstico por imagem , UltrassonografiaRESUMO
PURPOSE: We aimed to investigate the value of magnetic resonance imaging (MRI)-based parameters in differentiating between progressive massive fibrosis (PMF) and lung cancer. METHODS: This retrospective study included 60 male patients (mean age, 67.0±9.0 years) with a history of more than 10 years working in underground coal mines who underwent 1.5 T MRI of thorax due to a lung nodule/mass suspicious for lung cancer on computed tomography. Thirty patients had PMF, and the remaining ones had lung cancer diagnosed histopathologically. The sequences were as follows: coronal single-shot turbo spin echo (SSH-TSE), axial T1- and T2-weighted spin-echo (SE), balanced turbo field echo, T1-weighted high-resolution isotropic volume excitation, free-breathing and respiratory triggered diffusion-weighted imaging (DWI). The patients' demographics, lesion sizes, and MRI-derived parameters were compared between the patients with PMF and lung cancer. RESULTS: Apparent diffusion coefficient (ADC) values of DWI and respiratory triggered DWI, signal intensities on T1-weighted SE, T2-weighted SE, and SSH-TSE imaging were found to be significantly different between the groups (p < 0.001, for all comparisons). Median ADC values of free-breathing DWI in patients with PMF and cancer were 1.25 (0.93-2.60) and 0.76 (0.53-1.00) (× 10-3 mm2/s), respectively. Most PMF lesions were predominantly iso- or hypointense on T1-weighted SE, T2-weighted SE, and SSH-TSE, while most malignant ones predominantly showed high signal intensity on these sequences. CONCLUSION: MRI study including SE imaging, specially T1-weighted SE imaging and ADC values of DWI can help to distinguish PMF from lung cancer.
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Imagem de Difusão por Ressonância Magnética , Neoplasias Pulmonares , Idoso , Fibrose , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Traditional imaging modalities are not useful in the follow-up of irradiated metastatic brain tumors, because radiation can change imaging characteristics. We aimed to assess the ability of treatment response assessment maps (TRAMs) calculated from delayed-contrast magnetic resonance imaging (MRI) in differentiation between radiation effect and persistent tumoral tissue. METHODS: TRAMs were calculated by subtracting three-dimensional T1 MRIs acquired 5 minutes after contrast injection from the images acquired 60-105 minutes later. Red areas were regarded as radiation effect and blue areas as persistent tumoral lesion. Thirty-seven patients with 130 metastatic brain tumors who were treated with Gamma Knife radiosurgery and who underwent TRAMs perfusion-weighted MRI were enrolled in this retrospective study. RESULTS: The median age was 58 years and the most common primary diagnosis was lung cancer (n = 21). The median follow-up period of patients was 12 months. The overall local control rate was 100% at 1 year and 98.9% at 2 years. The median progression-free survival was 12 months. The mean overall survival was 27.3 months. The radiologic and clinical follow-up showed a clinicoradiologic diagnosis of a persistent tumoral lesion in 3 tumors (2.3%) and radiation effect in 127 tumors (97.7%). There was a fair agreement between clinicoradiologic diagnosis and TRAMs analysis (κ = 0.380). The sensitivity and positive predictive value of TRAMs in diagnosing radiation effect were 96.06% and 99.2%, respectively. TRAMs showed comparable results to perfusion-weighted MRI, with a diagnostic odds ratio of 27.4 versus 20.7, respectively. CONCLUSIONS: The presented results show the ability of TRAMs in differentiating radiation effect and persistent tumoral lesions.
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Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/radioterapia , Lesões por Radiação/diagnóstico por imagem , Radiocirurgia , Adulto , Idoso , Neoplasias Encefálicas/secundário , Neoplasias da Mama/patologia , Feminino , Humanos , Imageamento Tridimensional , Neoplasias Pulmonares/patologia , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasia Residual , Carga TumoralRESUMO
OBJECTIVE: The study was designed to determine the relationship between survival time of standardized uptake value (SUVmax and SUVmean) and metabolic tumor volume (MTV) in patients with non-small cell lung cancer (NSCLC), and examine the impact of demographic, clinical, and radiological data of these patients on survival. MATERIALS AND METHODS: We performed a retrospective analysis of the records of 79 patients with NSCLC who presented to our hospital between May 2010 and March 2013, received a final diagnosis, and underwent F-FDG PET/CT for staging. Clinical, radiological, and F-FDG PET/CT parameters with an impact on prognosis such as the SUVmax of the primary tumor as calculated by the volumetric region of interest in the F-FDG PET/CT scans during initial diagnosis, mean SUV of the tumor, and MTV obtained with a threshold of SUVmax greater than 2.5 were recorded and statistically analyzed. A statistical analysis was carried out based on the clinical, radiological, and PET/CT findings of the patients who were divided into 2 groups: survivors and nonsurvivors. RESULTS: Seventy patients (88.6%) were men, and 9 (11.4%) were women. The mean age was 63.65 ± 11.51 years in the nonsurvivor group (n = 40) versus 62.74 ± 10.60 years in the survivor group (n = 39) (Table 1). The mean survival time from diagnosis was 7.9 ± 6.52 months in the nonsurvivor group versus 14.09 ± 7.41 months in the survivor group. The mean survival time was 12.9 ± 7.9 months for those aged 60 or younger, whereas it was 9.9 ± 7.2 years for those aged 60 or older. According to the Cox regression analysis, higher MTV [relative risk (RR), 1.006; P = 0.03] and mean SUVmax (mSUV) (RR, 1.302; P = 0.03) had a significant impact on shortening of the mean survival time. However, no statistical significance was reached for SUVmax measurements (RR, 0.970; P = 0.39). Furthermore, there was a significant relationship between increased tumor size (<2 cm, 2-4 cm, and ≥4 cm) and shortened mean survival time (P = 0.03). CONCLUSION: The present study showed that MTV and mSUV of FDG PET/CT scans of the tumor, but not SUVmax, had a significant impact on survival time of patients with NSCLC. Based on this result, we believe that we might have more accurate information about the survival time of our patients if we also evaluate mSUV and MTV in combination with mSUV, which is frequently used for diagnosis and monitoring of patients with NSCLC during our daily practice.
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Carcinoma Pulmonar de Células não Pequenas/diagnóstico por imagem , Fluordesoxiglucose F18 , Neoplasias Pulmonares/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Tomografia Computadorizada por Raios X , Idoso , Carcinoma Pulmonar de Células não Pequenas/patologia , Feminino , Humanos , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Análise de Sobrevida , Carga TumoralRESUMO
Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and butterfly vertebra. We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left inguinal hernia, typical facial appearance for Fryns syndrome, and cecal duplication cyst. Fryns syndrome is the one of the most common syndromes associated with congenital diaphragmatic defect (CDH), reported in up to 10% of patients with CDH. Although no eye abnormality was seen in our patient, other findings were similar to the other typical diagnostic findings, with the exception of cecal duplication cyst and some other defects not defined before.
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Fácies , Hérnia Diafragmática , Deformidades Congênitas dos Membros , Hérnia Diafragmática/diagnóstico por imagem , Hérnia Diafragmática/patologia , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico por imagem , Deformidades Congênitas dos Membros/patologia , Masculino , RadiografiaRESUMO
Bilateral traumatic hemorrhage of the basal ganglia is an extremely rare neuropathologic entity. Bilateral basal ganglia hemorrhage secondary to blast injury has not described before. We report a case with bilateral basal ganglia hemorrhage secondary to explosion.