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1.
Nephrology (Carlton) ; 27(10): 810-814, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35960161

RESUMO

BCS1L pathogenic variants cause widely different clinical phenotypes. Disease phenotypes can be as mild as Björnstad syndrome, characterized by pili torti (abnormal flat twisted hair shafts) and sensorineural hearing loss, or as severe as GRACILE syndrome, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death. BCS1L pathogenic variants are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving renal and hepatic pathologies, hypotonia, and developmental delays. So far, all patients with GRACILE syndrome carry a homozygous p.Ser78Gly variant in BCS1L gene by reviewing articles. A 24-day-old boy presented with typical clinical phenotype of GRACILE syndrome. The Whole Exome Sequencing confirmed that the patient had a missense variant (c.245C > T, p.Ser82Leu) and a small deletion (c.231_232delCA, p. Ser78Cysfs*9) in BCS1L gene inherited from his father and mother separately, he died at 5 months of age. We reported a patient with GRACILE syndrome and identified two novel variants in BCS1L gene. Our study expands the mutational spectrum of BCS1L gene associated with GRACILE syndrome and will be beneficial for genetic diagnosis.


Assuntos
Acidose Láctica , Colestase , ATPases Associadas a Diversas Atividades Celulares/genética , Acidose Láctica/genética , Colestase/diagnóstico , Colestase/genética , Complexo III da Cadeia de Transporte de Elétrons , Retardo do Crescimento Fetal , Hemossiderose , Humanos , Masculino , Erros Inatos do Metabolismo , Doenças Mitocondriais/congênito , Aminoacidúrias Renais
2.
J Zoo Wildl Med ; 53(2): 455-460, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35758588

RESUMO

Some wild species of mammals and birds are prone to excessive iron accumulation, especially when maintained in human care. Hemosiderosis is the process of intracellular accumulation of iron without evidence of toxicity, whereas hemochromatosis is characterized by severe iron accumulation with accompanying organ damage. Iron storage disease (ISD) occurs when organ damage is severe and causing clinical signs. This retrospective study investigated the occurrence of hemosiderosis and ISD across a variety of avian taxa, including captive and free-ranging birds. Archived paraffin-embedded hepatic samples from 103 birds from Belo Horizonte Zoo that died naturally in the period of 2008 to 2018 were re-evaluated with histologic and morphometric techniques, focusing on the identification and scoring of iron deposits in hepatocytes and the quantification of total affected hepatic area. The birds represented 13 orders, 22 families, and 52 genera, and 66 (64.0%) had some degree of iron accumulation in their liver. Importantly, no statistical difference was observed in the occurrence of iron accumulation between families, orders, or origin (free-ranging or captive). Direct and positive correlation was observed between the total area affected by the iron deposits and the histologic score. In this study, there were two cases with severe iron accumulation and clinical signs compatible with ISD: a barefaced curassow (Crax fasciolata) and a channel-billed toucan (Ramphastos vitellinus). This study indicates that iron accumulation may occur in a wide range of avian species, with frequencies and intensities that are similar between free-ranging birds and those in human care. It describes for the first time the occurrence of ISD in a Galliform species.


Assuntos
Doenças das Aves , Hemocromatose , Hemossiderose , Animais , Animais Selvagens , Animais de Zoológico , Doenças das Aves/epidemiologia , Aves , Hemocromatose/epidemiologia , Hemocromatose/veterinária , Hemossiderose/epidemiologia , Hemossiderose/veterinária , Estudos Retrospectivos
3.
Chest ; 161(5): e273-e278, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35526896

RESUMO

CASE PRESENTATION: An 11-month-old boy was admitted to our hospital because of "recurrent cough with intermittent dyspnea for more than 8 months, aggravated for 1 month." The baby began experiencing a recurrent milk-choking problem within 1.5 months after birth. He had been hospitalized four times, but the symptoms recurred. One month previously, the symptoms were aggravated and a chest CT scan performed at outside hospital showed interstitial changes. Pediatric bronchoscopy revealed bronchial inflammatory features, with hemosiderin-laden macrophages being found in BAL fluid (BALF). Also, periodic acid-Schiff (PAS) staining showed positive results, which indicated the possibility of pulmonary alveolar proteinosis (PAP) or idiopathic pulmonary hemosiderosis (IPH).


Assuntos
Hemossiderose , Doenças Pulmonares Intersticiais , Pneumopatias , Proteinose Alveolar Pulmonar , Broncoscopia , Criança , Hemossiderose/diagnóstico , Humanos , Lactente , Pneumopatias/diagnóstico , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Masculino , Proteinose Alveolar Pulmonar/diagnóstico , Proteinose Alveolar Pulmonar/diagnóstico por imagem , Tomografia Computadorizada por Raios X
5.
Prague Med Rep ; 123(2): 65-81, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35507939

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of diffuse alveolar hemorrhage (DAH). Glucocorticosteroids (CS) represent the first line therapy for IPH. Although most patients respond to CS, steroid refractoriness is seen in an appreciable minority of patients. This paper reviews and evaluates the efficacy and safety profile of liposomal dexamethasone 21-palmitate (liposteroid) for the treatment of IPH. Medline, Embase and Web of Science biomedical databases were searched between 1980 and 2020 to identify papers describing patients with IPH, who were treated with liposteroid. A total of five articles were identified. Four in the form of case reports and one as a case series. A total of 12 pediatric patients (5 boys, 7 girls) were identified, with a median age of 2.3 years (range 0.5-8.6). Liposteroid therapy in intravenous doses ranging 0.06-0.1 mg/kg body weight appeared to be effective for both remission induction therapy, and maintenance therapy. There was no mortality among patients treated with liposteroid, either in the acute phase or during follow-up. The majority of patients for whom long-term follow-up data were available, were cured or in disease remission. No acute adverse events were reported, and long-term side effects were minimal and tolerable. Liposteroid represents a potential alternative or supplement to conventional CS therapy, as it appears to be more efficacious and associated with fewer side effects. Larger prospective, controlled trials are necessary to be able to define more precisely the therapeutic role of liposteroid in IPH.


Assuntos
Hemossiderose , Pneumopatias , Criança , Pré-Escolar , Feminino , Hemossiderose/complicações , Hemossiderose/diagnóstico , Hemossiderose/tratamento farmacológico , Humanos , Lactente , Pneumopatias/complicações , Pneumopatias/tratamento farmacológico , Masculino , Estudos Prospectivos
6.
J Med Case Rep ; 16(1): 147, 2022 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-35399095

RESUMO

BACKGROUND: Adolescents and young adults diagnosed with acute lymphoblastic leukemia are treated according to pediatric-based regimens to achieve better results. However, implementation of intensive chemotherapy protocols in this age group is associated with increased treatment-related toxicities, affecting almost every organ and system. In this case, the focus of our interest was on rather rare entities: steroid-induced psychosis that seldom develops in children and adolescents, and choroid plexus hemosiderosis, infrequently identified as a first sign of iron overload. CASE PRESENTATION: The aim of this paper is to present a challenging case of a 15-year-old Caucasian male patient treated for high-risk acute lymphoblastic leukemia and who experienced various adverse incidents during intensive chemotherapy, thus necessitating a high-quality multidisciplinary approach. Slow minimal residual disease clearance was an additional concerning issue. Induction and re-induction were complicated by steroid-induced hyperglycemia that required multiple-week insulin. During consolidation, acute kidney injury on the basis of chronic kidney disease was verified, demanding subsequent drug dose modifications. By the end of re-induction, after dexamethasone cessation, infrequent steroid-induced psychosis, presented as incoherent speech, aggressive behavior, and mood swings, required intensive psychiatric support. Neurological evaluation of seizures revealed uncommon choroid plexus hemosiderosis by brain magnetic resonance imaging, warranting appropriate selection of iron chelation therapy in the context of preexisting nephropathy. Ultimately, iron deposits of moderate intensity were verified by liver magnetic resonance imaging, while heart tissue remained intact. The early diagnosis and adequate treatment of aforementioned difficult toxicities resulted in complete recovery of the patient. CONCLUSIONS: Treating adolescents with high-risk acute leukemia and multiple therapy-related morbidities remains a challenge, even in the era of extensive and effective supportive therapy. Superior survival rates might be achieved by prompt recognition of both frequent and rarely encountered adverse episodes, as well as well-timed and appropriate management by a well-coordinated multidisciplinary team.


Assuntos
Hemossiderose , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Criança , Hemossiderose/tratamento farmacológico , Hemossiderose/etiologia , Humanos , Ferro/uso terapêutico , Masculino , Neoplasia Residual/tratamento farmacológico , Neoplasia Residual/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adulto Jovem
9.
Lung ; 200(2): 205-215, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35267072

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease that causes diffuse alveolar hemorrhage (DAH). The latest data suggests an immunologic origin of IPH, and a new name, immune mediated pulmonary hemosiderosis (ImPH), has been proposed. However, the exact immunologic mechanism has remained elusive for nearly eight decades despite extensive research, including detailed histopathologic analysis. Although several hypotheses have been proposed to describe the pathobiology of IPH, none of them explain the clinical and histopathologic findings conclusively. In this manuscript, we have presented a new hypothesis for the pathogenesis of DAH in IPH. We hypothesize that DAH in IPH is not immunocomplex mediated but due to histamine, eosinophilic cationic protein (ECP), and possibly vascular endothelial growth factor (VEGF). These bioactive proteins induce endothelial and alveolar epithelial damage, leading to the peri-capillary and intraalveolar escape of RBCs. The deformability of the RBC likely also plays a role. The supranormal secretion of histamine, ECP and VEGF occurs in genetically predisposed individuals with an aberrant immunologic response. The histamine is released from the basophils and possibly the mast cells in response to cytokines secreted by activated lymphocytes. The lymphocyte activation occurs after exposure to a known (gluten) or unknown antigen. The same lymphocyte-derived cytokines also induce eosinophilic degranulation of ECP and VEGF in the pulmonary circulation. We believe that our hypothesis unifies the observed clinical variabilities and histopathologic findings in IPH, and we hope that would promote future research in the field of IPH.


Assuntos
Histamina , Fator A de Crescimento do Endotélio Vascular , Citocinas , Hemorragia/etiologia , Hemossiderose , Humanos , Pneumopatias
10.
Am J Med Sci ; 364(1): 111-117, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35276072

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of recurrent episodes of diffuse alveolar hemorrhage (DAH). IPH commonly manifests with hemoptysis, radiologic chest infiltrates and anemia. The etiology of IPH is unknown, but an immunologic mechanism is widely speculated. The definitive diagnosis of IPH requires a thorough exclusion of other causes of DAH, such as infections, inflammation, malignancy, cardiac diseases, drug and toxin exposure, and medications. Due to the rarity of the disease, a diagnosis is often delayed by years. We present the case of a 49-year-old man with ischemic cardiomyopathy who presented with hemoptysis for eighteen months. Serologic workup was negative for vasculitides and autoimmune diseases. Bronchoscopy revealed DAH. A surgical lung biopsy showed 'bland pulmonary hemorrhage.' A right heart catheterization ruled out cardiac causes of DAH. The patient was diagnosed with IPH and started on systemic corticosteroids with rapid improvement of hemoptysis.


Assuntos
Cardiomiopatias , Hemossiderose , Pneumopatias , Isquemia Miocárdica , Hemoptise/diagnóstico , Hemoptise/etiologia , Hemorragia/complicações , Hemossiderose/diagnóstico , Humanos , Pneumopatias/diagnóstico , Masculino , Pessoa de Meia-Idade
11.
Respir Investig ; 60(3): 438-442, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35307363

RESUMO

We describe a rare case of a 20-year-old Japanese man with idiopathic pulmonary hemosiderosis (IPH) recurrence in adults with childhood onset (racIPH). IPH commonly occurs in children, and data regarding racIPH are lacking. A review of the literature showed that only five cases of racIPH have been reported (including the present case) and that racIPH shows features that are intermediate between childhood- and adult-onset IPH with respect to age and a lower frequency of smoking history. We also found that the degree of anemia was usually not severe, and a favorable response to corticosteroid therapy is expected in racIPH.


Assuntos
Anemia , Hemossiderose , Pneumopatias , Adulto , Criança , Hemossiderose/complicações , Hemossiderose/tratamento farmacológico , Humanos , Pneumopatias/complicações , Pneumopatias/tratamento farmacológico , Masculino , Adulto Jovem
12.
Clin Rheumatol ; 41(6): 1627-1640, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35179664

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease without a known incidence or prevalence in adults. Our knowledge of this entity is limited as there is no prospective or retrospective study with a reasonable number of patients. The objective is to describe the demographics, clinical manifestations, diagnosis, treatment, and prognosis of adult patients with IPH. The Medline and Embase databases were searched from inception to 2021 with appropriate search formulas to identify relevant articles following strict inclusion and exclusion criteria. Statistical analyses were performed for the entire cohort and prespecified subgroups. A total of 84 patients were identified. The majority of patients were males 54/84 (64.3%). The median age was 27 years. The manifesting symptoms were present in the following frequencies: anemia 76/83 (91.6%), dyspnea 71/83 (85.5%), hemoptysis 70/84 (83.3%), cough 22/84 (26.2%), and chest pain 9/84 (10.7%). The classic triad was present in 61/84 (79%) patients. The mean hemoglobin during the initial presentation was 8.4 gm/dL. A total of 16/57 (19.5%) tested positive for autoantibodies. The median delay in the diagnosis of IPH was 1.02 years. Immunosuppressive therapy was prescribed in 49/79 (62%) patients, and recurrence occurred in more than half of the patients 36/66 (54.5%). A total of 63/79 (79.7%) patients were alive during the final follow-up. IPH is more common in young adults with a male predominance. A high index of suspicion is necessary to attain an early diagnosis and possibly reduce the short-term mortality of nearly 20% and long-term complications.


Assuntos
Hemossiderose , Pneumopatias , Adulto , Feminino , Hemoptise/complicações , Hemossiderose/complicações , Hemossiderose/diagnóstico , Hemossiderose/tratamento farmacológico , Humanos , Pneumopatias/complicações , Pneumopatias/diagnóstico , Pneumopatias/epidemiologia , Masculino , Estudos Retrospectivos , Adulto Jovem
14.
Clin Rheumatol ; 41(4): 977-990, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35067768

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unknown etiology. Due to the frequent findings of autoimmune antibodies - autoantibodies, immunologic causation of the diffuse alveolar hemorrhage in IPH has been proposed, to assess the prevalence/frequency and type of autoantibodies in pediatric patients with IPH. In addition, the patient demographics, diagnostic modalities used to diagnose IPH, treatment, and outcomes were also evaluated. Scoping review: The PubMed, Medline, and Embase databases were searched with appropriate MeSH terms to identify relevant papers consistent with the defined inclusion criteria. Thirteen observational studies comprising a total of 352 pediatric patients were included in this review. The majority of subjects were girls 217 out of 352 (61.6%). The mean and median ages of patients ranged from 3.1-6.5 years to 2.3-7 years, respectively. In the 10 studies that specified the number of patients in their cohorts with either at least one positive autoantibody or no antibody, the overall prevalence of autoantibodies was 76 out of 288 patients (26.4%). The prevalence of specific antibodies was as follows: ANA, 20.3%; ANCA, 17%; anti-dsDNA, 9.1%; RF, 12%; anti-SMA, 23.2%; and celiac antibodies, 25.9%. Cow's milk protein allergy was present in 16.2% of the children. The significance of an association between IPH and the presence of autoantibodies has not been clarified. The autoantibodies could be suggestive of an overall immune dysregulation rather than causation. However, limited evidence based on a single study suggests that the presence of ANA may be associated with a higher risk of recurrence and worse outcomes. Further research, including prospective studies, will be crucial to explore a possible genetic linkage between vasculitides, systemic rheumatologic diseases, and IPH.


Assuntos
Hemossiderose , Pneumopatias , Autoanticorpos , Criança , Hemossiderose/complicações , Hemossiderose/diagnóstico , Hemossiderose/epidemiologia , Humanos , Pneumopatias/complicações , Estudos Observacionais como Assunto , Prevalência , Estudos Prospectivos
15.
Pediatr Pulmonol ; 57(5): 1127-1144, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35088581

RESUMO

INTRODUCTION: Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of diffuse alveolar hemorrhage, the mechanism of which is currently unknown. Nearly one-third of pediatric patients with IPH test positive for Celiac disease (CD) serology. Several hypothetical mechanisms have been proposed to unify the coexistence of these two entities, also referred to as Lane-Hamilton syndrome (LHS). METHOD: This manuscript is a scoping review of the medical literature. Medline, Embase, and PubMed Central databases were searched between 1971 and 2021 with appropriate search words to identify all cases of pediatric LHS. RESULTS: A total of 20 manuscripts with 23 pediatric patients with LHS were identified. The mean age was 11 years, and 13/23 (56.5%) of the children were boys. Hemoptysis was present in 57% of patients during diagnosis. Bronchoscopy with bronchoalveolar lavage demonstrating hemosiderin laden macrophages was the primary mode of diagnostic confirmation. Only three patients underwent lung biopsy. Any significant GI symptom was reported in a minority of patients (22%). Iron deficiency anemia on presentation was described in 83% of children. The majority of patients were malnourished. Serology for CD was positive in all patients, as was the histopathologic analysis of the small bowel biopsy. No patients had any other autoantibody positivity. The introduction of gluten free diet (GFD) was associated with a positive response in 20/23 patients. CONCLUSION: All pediatric patients with IPH should undergo screening for CD. Low serum ferritin in patients with IPH could be suggestive of coexisting CD. Strict GFD should be tried as the initial therapy.


Assuntos
Doença Celíaca , Hemossiderose , Pneumopatias , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Criança , Feminino , Hemoptise/etiologia , Hemossiderose/complicações , Hemossiderose/diagnóstico , Humanos , Pneumopatias/complicações , Pneumopatias/diagnóstico , Masculino
16.
Respir Investig ; 60(1): 82-89, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34312096

RESUMO

Idiopathic pulmonary hemosiderosis (IPH) is a rare immunological disease with a genetic predisposition. It is characterized by recurrent episodes of diffuse alveolar hemorrhage (DAH). Timely use of immunosuppressive medications has significantly improved overall outcomes, including mortality. Still, uncontrolled and frequent episodes of DAH can eventually cause pulmonary fibrosis, leading to end-stage lung disease (ESLD). The objective of the present project was to scrutinize the literature and summarize the demographic, clinical, radiological, and histopathological features, as well as the overall outcomes, in this patient population following lung transplant. The Medline database was searched using the PubMed platform. Articles published in English between 1960 and 2020 were included in the search. Different search terms were used to identify all patients who underwent lung transplantation to manage ESLD due to IPH. Only four cases of lung transplantation have been reported in the literature in patients with IPH. All but one of these underwent deceased donor lung transplant; recurrence was reported in two of these patients and suspected in the third. One patient received living donor lung transplant and had no recurrence during a five-year follow-up. Patients with IPH should not be excluded from lung transplantation because the disease may not recur in all patients, and even when it does recur it can be promptly treated by increasing immunosuppression.


Assuntos
Hemossiderose , Pneumopatias , Transplante de Pulmão , Hemoptise , Hemossiderose/etiologia , Humanos , Pneumopatias/etiologia , Pneumopatias/cirurgia
17.
Stroke ; 53(2): 552-557, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34538086

RESUMO

BACKGROUND AND PURPOSE: Although evidence accumulates that the cerebellum is involved in cerebral amyloid angiopathy (CAA), cerebellar superficial siderosis is not considered to be a disease marker. The objective of this study is to investigate cerebellar superficial siderosis frequency and its relation to hemorrhagic magnetic resonance imaging markers in patients with sporadic and Dutch-type hereditary CAA and patients with deep perforating arteriopathy-related intracerebral hemorrhage. METHODS: We recruited patients from 3 prospective 3 Tesla magnetic resonance imaging studies and scored siderosis and hemorrhages. Cerebellar siderosis was identified as hypointense linear signal loss (black) on susceptibility-weighted or T2*-weighted magnetic resonance imaging which follows at least one folia of the cerebellar cortex (including the vermis). RESULTS: We included 50 subjects with Dutch-type hereditary CAA, (mean age 50 years), 45 with sporadic CAA (mean age 72 years), and 43 patients with deep perforating arteriopathy-related intracerebral hemorrhage (mean age 54 years). Cerebellar superficial siderosis was present in 5 out of 50 (10% [95% CI, 2-18]) patients with Dutch-type hereditary CAA, 4/45 (9% [95% CI, 1-17]) patients with sporadic CAA, and 0 out of 43 (0% [95% CI, 0-8]) patients with deep perforating arteriopathy-related intracerebral hemorrhage. Patients with cerebellar superficial siderosis had more supratentorial lobar (median number 9 versus 2, relative risk, 2.9 [95% CI, 2.5-3.4]) and superficial cerebellar macrobleeds (median number 2 versus 0, relative risk, 20.3 [95% CI, 8.6-47.6]) compared with patients without the marker. The frequency of cortical superficial siderosis and superficial cerebellar microbleeds was comparable. CONCLUSIONS: We conclude that cerebellar superficial siderosis might be a novel marker for CAA.


Assuntos
Doenças Cerebelares/etiologia , Angiopatia Amiloide Cerebral/complicações , Hemossiderose/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Córtex Cerebelar/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/genética , Angiopatia Amiloide Cerebral/diagnóstico por imagem , Angiopatia Amiloide Cerebral/genética , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Feminino , Hemossiderose/diagnóstico por imagem , Hemossiderose/genética , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Siderose , Adulto Jovem
18.
Clin Rheumatol ; 41(2): 325-336, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34491458

RESUMO

This narrative review provides an overview of diffuse alveolar hemorrhage (DAH) associated with rheumatologic and autoimmune diseases and their differentiation from idiopathic pulmonary hemosiderosis (IPH). Relevant immunologic diseases associated with DAH are discussed, and a diagnostic flowchart is proposed to establish a "definitive" diagnosis of IPH within the spectrum of DAH. IPH is a rare cause of recurrent DAH both in children and adults. In adults, a definitive diagnosis of IPH requires a lung biopsy and histopathologic examination demonstrating intraalveolar hemorrhage, hemosiderin-laden macrophages, and a variable degree of fibrosis in the absence of both capillaritis and cellular inflammation. The presence of small vessel vasculitis points towards immunologic, well-differentiated, or sometimes undifferentiated rheumatologic diseases. However, it is essential to recognize that many rheumatologic diseases may in the initial phase present with DAH without any evidence of capillaritis, thus mimicking IPH. Although not definitely established, it is likely that immunologic processes are involved in IPH, and we, therefore, suggest the consideration of a more suitable term for the disease, e.g., "Immune-mediated Pulmonary Hemosiderosis" to acknowledge the aberrancy in the immune parameters and a positive response to immunosuppressive therapy.


Assuntos
Artrite Reumatoide , Doenças Autoimunes , Pneumopatias , Adulto , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Criança , Hemorragia/complicações , Hemorragia/diagnóstico , Hemossiderose , Humanos , Pulmão/diagnóstico por imagem , Pneumopatias/complicações , Pneumopatias/diagnóstico
19.
Eur Arch Otorhinolaryngol ; 279(9): 4363-4370, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34931263

RESUMO

INTRODUCTION: Superficial hemosiderosis is a sub-form of hemosiderosis in which the deposits of hemosiderin in the central nervous system damage the nerve cells. This form of siderosis is caused by chronic cerebral hemorrhages, especially subarachnoid hemorrhages. The diversity of symptoms depends on the respective damage to the brain, but in most of the cases it shows up as incipient unilateral or bilateral hearing loss, ataxia and signs of pyramidal tracts. We are investigating the question of whether cochlear implantation is a treatment option for patients with superficial hemosiderosis and which strategy of diagnostic procedure has to be ruled out preoperatively. MATERIALS AND METHODS: In a tertiary hospital between 2009 and 2018, we examined (N = 5) patients with radiologically confirmed central hemosiderosis who suffered from profound hearing loss to deafness were treated with a cochlear implant (CI). We compared pre- and postoperative speech comprehension (Freiburg speech intelligibility test for monosyllables and HSM sentence test). RESULTS: Speech understanding improved on average by 20% (monosyllabic test in the Freiburg speech intelligibility test) and by 40% in noise (HSM sentence test) compared to preoperative speech understanding with optimized hearing aids. DISCUSSION: The results show that patients with superficial siderosis benefit from CI with better speech understanding. The results are below the average for all postlingual deaf CI patients. Superficial siderosis causes neural damages, which explains the reduced speech understanding based on central hearing loss. It is important to correctly weigh the patient's expectations preoperatively and to include neurologists within the therapy procedure.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Hemossiderose , Siderose , Percepção da Fala , Cóclea , Implante Coclear/métodos , Hemossiderose/complicações , Hemossiderose/diagnóstico , Hemossiderose/cirurgia , Humanos , Resultado do Tratamento
20.
Pediatr Dev Pathol ; 25(3): 292-295, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34962169

RESUMO

INTRODUCTION: Diffuse chorionic hemosiderosis (DCH) is an abnormality of the placental membranes characterized by the deposition of iron pigment. It is usually secondary to recurrent venous bleeding in early pregnancy. In many papers, it is associated with pre-term delivery. Fetal vascular malperfusion (FVM) is an abnormality of the feto-placental circulation that may be seen at any stage of gestation, but most often in the third trimester. It may be graded as low grade (LGFVM) or high grade (HGFVM). No link has been identified in the placental literature between DCH and FVM, but we have noted the 2 co-existing in placentas submitted for analysis. This study explored a possible association of these 2 entities. METHODS: Laboratory records were searched for singleton cases coded as DCH based on diagnosis on H&E stain over a 6-year period. Of 4478 placentas reported, 66 cases were coded as DCH (1.5%). These were classified as showing HGFVM, LGFVM, or no FVM. Controls (n = 132) were gestational age-matched cases without DCH. Cord length, coiling, insertion, or other abnormalities were noted. Membranes were classified as normal or circumvallate. Results were analyzed using Graphpad. RESULTS: Gestation ranged between 16 and 41 weeks gestation. 14/66 (21%) cases of DCH showed HGFVM and 2/66 (3%) showed LGFVM. 16/132 (12%) controls showed HGFVM and 21/132 (15.9%) had LGFVM. Where FVM is present, high-grade FVM is significantly associated with DCH versus controls (P < .0031 Fischer's Test). DISCUSSION: HGFVM occurs significantly more often in placentas with DCH than in controls. Both FVM and DCH are associated with adverse perinatal outcomes, and a possible relationship between the 2 remains to be clarified.


Assuntos
Hemossiderose , Doenças Placentárias , Córion/patologia , Feminino , Idade Gestacional , Hemossiderose/complicações , Hemossiderose/etiologia , Humanos , Placenta/patologia , Doenças Placentárias/diagnóstico , Doenças Placentárias/patologia , Gravidez
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