Lipid storage disease in 4 sibling superb birds-of-paradise (Lophorina superba).

Pedigree analysis, clinical, gross, microscopic, ultrastructural, and lipidomic findings in 4 female superb bird-of-paradise (SBOP, Lophorina superba) siblings led to the diagnosis of a primary inherited glycerolipid storage disease. These birds were the offspring of a related breeding pair (inbreeding coefficient = 0.1797) and are the only known SBOPs to display this constellation of lesions. The birds ranged from 0.75 to 4.3 years of age at the time of death. Two birds were euthanized and 1 died naturally due to the disease, and 1 died of head trauma with no prior clinical signs. Macroscopic findings included hepatomegaly and pallor (4/4), cardiac and renal pallor (2/4), and coelomic effusion (1/4). Microscopic examination found marked tissue distortion due to cytoplasmic lipid vacuoles in hepatocytes (4/4), cardiomyocytes (4/4), renal tubular epithelial cells (4/4), parathyroid gland principal cells (2/2), exocrine pancreatic cells (3/3), and the glandular cells of the ventriculus and proventriculus (3/3). Ultrastructurally, the lipids were deposited in single to coalescing or fused droplets lined by an inconspicuous or discontinuous monolayer membrane. Lipidomic profiling found that the cytoplasmic lipid deposits were primarily composed of triacylglycerols. Future work, including sequencing of the SBOP genome and genotyping, will be required to definitively determine the underlying genetic mechanism of this disease.

Clinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.

Progressive supranuclear palsy (PSP) can be diagnosed despite the presence of asymmetrical parkinsonism depending on the clinical diagnostic criteria. Some studies have reported that atrophy of the superior cerebellar peduncle (SCP) is more frequent in PSP than in Parkinson's disease. There have also been reports of PSP cases with an asymmetrically atrophic SCP. Therefore, we analyzed 48 specimens from consecutive autopsy cases that were neuropathologically diagnosed as PSP to investigate the laterality of brain lesions, including the SCP. We measured the width of the SCP and evaluated the laterality of atrophy. We semi-quantitatively evaluated neuronal loss, atrophy/myelin pallor, and tau pathology in three steps. Asymmetrical atrophy of the SCP was present in seven (14.6%) of 48 cases. The atrophic side of the SCP corresponded to the dominant side of the tau pathology in the cerebellar dentate nucleus. It was opposite to the dominant side of the myelin pallor and tau pathology in the red nucleus and of the tau pathology in the central tegmental tract and inferior olivary nucleus, coinciding with the neurologically systematic anatomy of the Guillain-Mollaret triangle. Neurodegeneration of PSP can progress asymmetrically from one side to the initially intact side in PSP with an initial predominance of Richardson's syndrome, progressive gait freezing, ocular motor dysfunction, parkinsonism, or corticobasal syndrome. To our knowledge, no previous study has reported asymmetrical PSP neuropathology; this is the first study to report the presence of PSP cases with asymmetrical SCP atrophy and systematically asymmetrical degeneration of the Guillain-Mollaret triangle.

Postradiation Optic Atrophy Is Associated With Intraocular Pressure and May Manifest With Neuroretinal Rim Thinning.

BACKGROUND: To determine risk factors for postradiation optic atrophy (PROA) after plaque radiotherapy for uveal melanoma. METHODS: A single center, retrospective cohort study of patients diagnosed with uveal melanoma involving choroid and/or ciliary body treated with plaque between January 1, 2008, and December 31, 2016. Outcomes included development of PROA with pallor alone or with concomitant neuroretinal rim thinning (NRT). Cox regression analysis was performed to identify risk factors for PROA. RESULTS: Of 78 plaque-irradiated patients, PROA developed in 41 (53%), with concomitant NRT in 15 (19%). Risk factors for PROA of any type included presentation with worse visual acuity (odds ratio [95% confidence interval] 5.6 [2.3-14.1], P < 0.001), higher baseline intraocular pressure (IOP; 14 vs 16 mm Hg) (1.1 [1.0-1.2], P = 0.03), shorter tumor distance to optic disc (1.3 [1.2-1.5], P < 0.001) and foveola (1.2 [1.1-1.3], P < 0.001), subfoveal subretinal fluid (3.8 [2.0-7.1], P < 0.001), greater radiation prescription depth (1.3 [1.1-1.6], P = 0.002), dose to fovea (point dose) (1.01 [1.01-1.02], P < 0.001), and mean (1.02 [1.02-1.03], P < 0.001) and maximum dose to optic disc per 1 Gy increase (1.02 [1.01-1.03], P < 0.001). On multivariate modeling, dose to disc, baseline IOP, and subfoveal fluid remained significant. Subanalysis revealed risk factors for pallor with NRT of greater mean radiation dose to disc (1.03 [1.01-1.05], P = 0.003), higher maximum IOP (17 vs 20 mm Hg) (1.4 [1.2-1.7], P < 0.001), and subfoveal fluid (12 [2-63], P = 0.004). CONCLUSION: PROA may result in NRT in addition to optic disc pallor. Risk factors for PROA included higher radiation dose to optic disc, higher baseline IOP, and subfoveal fluid. Higher maximum IOP contributed to concomitant NRT.

Non-Invasive Detection of Anaemia Using Digital Photographs of the Conjunctiva.

BACKGROUND AND AIMS: Anaemia is a major health burden worldwide. Although the finding of conjunctival pallor on clinical examination is associated with anaemia, inter-observer variability is high, and definitive diagnosis of anaemia requires a blood sample. We aimed to detect anaemia by quantifying conjunctival pallor using digital photographs taken with a consumer camera and a popular smartphone. Our goal was to develop a non-invasive screening test for anaemia. PATIENTS AND METHODS: The conjunctivae of haemato-oncology in- and outpatients were photographed in ambient lighting using a digital camera (Panasonic DMC-LX5), and the internal rear-facing camera of a smartphone (Apple iPhone 5S) alongside an in-frame calibration card. Following image calibration, conjunctival erythema index (EI) was calculated and correlated with laboratory-measured haemoglobin concentration. Three clinicians independently evaluated each image for conjunctival pallor. RESULTS: Conjunctival EI was reproducible between images (average coefficient of variation 2.96%). EI of the palpebral conjunctiva correlated more strongly with haemoglobin concentration than that of the forniceal conjunctiva. Using the compact camera, palpebral conjunctival EI had a sensitivity of 93% and 57% and specificity of 78% and 83% for detection of anaemia (haemoglobin < 110 g/L) in training and internal validation sets, respectively. Similar results were found using the iPhone camera, though the EI cut-off value differed. Conjunctival EI analysis compared favourably with clinician assessment, with a higher positive likelihood ratio for prediction of anaemia. CONCLUSIONS: Erythema index of the palpebral conjunctiva calculated from images taken with a compact camera or mobile phone correlates with haemoglobin and compares favourably to clinician assessment for prediction of anaemia. If confirmed in further series, this technique may be useful for the non-invasive screening for anaemia.

Drugs, muscle pallor, and pyomyositis.

A 33-year-old athletic male was unexpectedly found dead in his bed. For several days prior to his death he complained of tenderness and swelling of his right buttock. The post-mortem examination revealed unilateral pale gluteal muscles and pustular impetiginized skin lesions of the right lower leg. The muscle histology demonstrated pronounced acute inflammation and limited necrosis of muscle fibers confined to the right gluteal muscles. Vascular occlusion and renal abnormalities were excluded by post-mortem angiography and histology respectively, and the diagnosis of non-tropical pyomyositis, possibly originating from the dermatological infection, was made. Toxicological testing revealed a potentially lethal intoxication with fentanyl and morphine. Pyomyositis is etiologically attributed to an infection and predominantly affects large limb or trunk muscles. Males are affected more frequently than females. Histologically, it is dominated by acute inflammatory infiltrates and may lead to sepsis and subsequent death. Although occurring less frequently, pyomyositis must be considered in the differential diagnosis of macroscopic localized muscle pallor, together with vascular occlusion and rhabdomyolysis. In such cases, only the examination of fresh frozen muscle tissue samples from different locations, together with the histological examination of the internal organs, particularly the kidneys, will facilitate the confirmation of the correct diagnosis.

Renal cortical pallor--a useful macroscopic marker for metabolic derangements at autopsy.

Renal cortical pallor was studied as a potential marker at autopsy of diabetic ketoacidosis in 23 cases, hyperglycemic nonketotic coma in eight cases, and alcoholic ketoacidosis in five cases (vitreous humor glucose level≥11.1 mM; ß-hydroxybutyrate level≥5 mM). Renal cortical pallor was noted on macroscopic examination in 10 of 23 cases of lethal diabetic ketoacidosis (43.5%), three of eight cases of fatal hyperglycemic nonketotic coma (37.5%), and in two of five cases of alcoholic ketoacidosis (40%). Histologic examination revealed basal vacuolization of renal tubular epithelial cells in 12 cases, Armanni-Ebstein lesions in 10, and osmotic nephrosis in three. Although renal cortical pallor did not appear to be a particularly sensitive marker for hyperglycemia or ketoacidosis, and did not correlate with the severity of these parameters, it may still represent a useful macroscopic marker for underlying metabolic conditions at autopsy and should therefore prompt measurement of vitreous humor glucose and ß-hydroxybutyrate levels.

Confluent muscle pallor: a macroscopic marker of cocaine-induced rhabdomyolysis.

A 39-year-old man presenting with acute delirium is reported who suffered an unexpected cardiac arrest shortly after being sedated. Death followed 2 days later from hypoxic-ischemic encephalopathy. At autopsy, marked pallor and edema of his left sternomastoid muscle was observed which was shown on microscopy to be due to confluent coagulative necrosis. Myoglobin casts in his renal tubules corresponded to an antemortem creatine phosphokinase level of 31,940 U/l. Death was due to rhabdomyolyisis and excited delirium complicating cocaine toxicity with hypoxic-ischemic encephalopathy, against a background of atherosclerotic coronary artery disease. Extensive confluent pallor in a single muscle may be a useful marker of chronic cocaine exposure associated with hyperthermia and muscle necrosis. Confirmatory toxicology is required.

The validity of pallor as a clinical sign of anemia in cases with beta-thalassemia.

Pallor is deemed useful in the evaluation of patients suspected of anemia, although its perceived presence or absence may be misleading in cases with increased pigmentation with iron, melanin, or bilirubin. The purpose of this study was to determine the validity of pallor in the detection of anemia in children with beta-thalassemia as an iron overload model. Patients with beta-thalassemia A aged 2 to 32 years who were admitted to the Hematology Unit, Department of Pediatrics, Ihsan Dogramaci Children's Hospital, Ankara, Turkey were assessed for the presence of pallor in three anatomic sites (palm, conjunctiva, buccal mucosa) by a trained pediatrician. Overall, 105 observations were done. The mean age of the patients was 14.7 +/- 6.5 years. The mean hemoglobin (Hb) value was 10.0 +/- 1.2 g/dl (range: 5.4-12.6 g/dl). The sensitivities of palmar, buccal and conjunctival pallor for identifying thalassemic children with anemia were 93.2, 80.7 and 90.9%, respectively. Cases with Hb values less than 11 g/dl could be easily detected by conjunctival pallor, independent of serum ferritin levels. However, there were significant associations between the presence of palmar or buccal pallor and the presence of anemia in children with serum ferritin levels lower than 2500 microg/L. Palmar pallor alone had the highest sensitivity and lowest specificity to detect anemia in cases with beta-thalassemia. Conjunctival pallor was more useful than buccal and palmar pallor in cases with high ferritin levels. Further studies are necessary to detect the validity of pallor in different underlying diseases with anemia.

Pallor as a sign of anaemia in small Tanzanian children at different health care levels.

BACKGROUND: Anaemia is a major complication of Plasmodium falciparum malaria among small children in sub-Saharan Africa. We studied the performance of the Integrated Management of Childhood Illness (IMCI) recommended assessment of no/some/severe pallor as predictor of anaemia in health surveys at community level and in clinical practice in an out patient department (OPD) and in a hospital ward in rural Tanzania. METHODS: The study was undertaken among 6-36 months old children. Pallor was evaluated as a combined assessment of conjunctiva, tongue and palms and categorised as no, some or severe pallor. Packed cell volume (PCV) was measured and related to pallor. FINDINGS: A total of 740 examinations were performed at village, OPD and in the hospital ward. The prevalences of severe pallor were 0%, 1.5% and 7% respectively. The prevalences of any pallor were 14%, 41% and 86%. The prevalences of severe anaemia (PCV<21%) were 1%, 5% and 81% and of any anaemia (PCV<33%) 68%, 73% and 98%. Severe pallor could not detect severe anaemia. The sensitivities were only 0%, 0% and 8%. The sensitivities of any pallor to detect severe anaemia were however 86% and 98% for children at the health care facility level, but still of relatively poor predictive values since the specificities were only 61% and 68%. INTERPRETATION: Division of pallor into some or severe degrees was of no use at any health care level. The identification of any pallor was of no use at village level, but it may possibly be of some value as a screening test for severe anaemia at health care facilities, if additional assessment is included in view of the low specificity and positive predictive value of the finding.

Algorithm for the diagnosis of anaemia without laboratory facilities among small children in a malaria endemic area of rural Tanzania.

BACKGROUND: Anaemia among small children in tropical Africa is common and often caused by infection with Plasmodium falciparum. The diagnosis of anaemia is difficult without a laboratory estimation of haemoglobin. The aim of this study was to examine if clinical findings related to malaria and anaemia would help to detect moderate and/or severe anaemia in children in rural Tanzania. METHODS: Children between 6 and 36 months were examined by health workers in an Out Patient Department (OPD) to detect severe anaemia (packed cell volume, PCV< or =20%) and in a cross sectional survey at village level to identify moderate anaemia (PCV 21-25%). History of recent fever and treatments was recorded and a clinical examination was performed. FINDINGS: In the survey, comparison of 65 moderately anaemic children with 373 mild/non anaemic children revealed no differences in history of fever or in the clinical examination. In the OPD comparison of 100 severely anaemic children with 116 non-severely anaemic control children revealed that pallor, respiratory rate, number of fever days last week, deteriorated general condition, heart rate, age, splenomegaly, low body weight and elevated body temperature were all indicators of severe 'anaemia, only pallor, respiratory rate, fever days and palpable spleen however, remained associated with severe anaemia in multiple regression analysis. The combination of any pallor and either respiratory rate >55/min or fever >3 days, could predict severe anaemia with a sensitivity of 96% and a specificity of 71%. This was better than the currently recommended signs of severe pallor or an approximation of the Integrated Management of Childhood Illness (IMCI) criteria's for referral of children. INTERPRETATION: At primary health care level detection of severe anaemia can be improved by information about fever duration and determination of respiratory rate in children with pallor.

Amethocaine-lidocaine cream, a new topical formulation for preventing venopuncture-induced pain in children.

BACKGROUND AND OBJECTIVES: The aim of this study was to compare the effectiveness of 3 anesthetic creams in relieving venous puncture-related pain in children. METHODS: We performed a double-blind, randomized, prospective study in 300 patients, American Society of Anesthesiologists (ASA) I-II, aged 3 months to 10 years, scheduled for minor elective surgical procedures. These children were distributed into 3 groups, with 100 patients each, according to each type of cream applied to the back of the children's hands before performing the venous puncture: Group I was given EMLA (eutectic 2.5% lidocaine and 2.5% prilocaine mixture), group II received 4% amethocaine (4% AMET), and group III was treated with AMLI (2.5% amethocaine and 2.5% lidocaine), a new anesthetic cream developed at our hospital. Each group was further classified into 5 subgroups, with 20 patients each, according to the time length of the application of the individual cream (group A, < or = 30 minutes; B, 30 minutes to 60 minutes; C, 60 minutes to 90 minutes; D, 90 minutes to 120 minutes; E, > or = 120 minutes). We evaluated pain, movement, and verbalization to puncture, as well as the appearance of adverse effects. RESULTS: Group I (EMLA), subgroup A (< or = 30 minutes), experienced significantly more pain, movement, and verbalization than groups II and III. Patients in group II (4% AMET) exhibited a higher frequency of untoward effects. CONCLUSIONS: All 3 creams proved to be effective in relieving venous puncture pain in children. EMLA presented a longer latency period, 4% amethocaine showed the highest percentage of untoward effects, and AMLI exhibited a shorter latency period than EMLA, while having fewer adverse effects than 4% AMET and EMLA.

The utility of pallor detecting anemia in under five years old children.

The diagnosis and management of anemia, which affects a significant proportion of young children in developing countries, largely depends on the clinical assessment for pallor. This study was conducted with the aim of evaluating the utility of pallor in detecting anemia. Children aged 2 to 60 months who visited the pediatric outpatient department of Jimma Hospital over 3 months period were assessed for the presence and degree of pallor in 4 anatomic sites (conjunctivae, tongue and buccal mucosa, nailbeds, palm) by trained nurses. Hemoglobin was then determined using the HemoCue method. Individuals involved in clinical examination did not have access to the laboratory results before documenting their findings. The mean hemoglobin in the 574 children examined was 11.03 gm/dl, and about 46% had anemia. Children younger than 2 years were found to have a higher prevalence of anemia as compared to older children (p < 0.001). Palmar pallor, with a sensitivity of 58%, had the highest sensitivity to detect moderate anemia as compared to other anatomic sites. The presence of either palmar or conjunctival pallor increased the sensitivity to 73%. The inter-observer agreement was highest for conjunctival pallor (kappa value = 0.81). The findings of the study suggest that pallor of a single anatomic site does not have adequate sensitivity to detect moderate anemia. We recommend further studies to look at the performance of severe pallor in correctly identifying severe anemia. Furthermore, the magnitude and causes of anemia need to be studied in a community setting.

Bilateral optic disk pallor after unilateral internal carotid artery occlusion.

Bilateral pallor of the optic disks was observed in a 52-year-old man after dissection of an internal carotid artery. Diffuse pallor of the ipsilateral optic disk reflected infarction of the ipsilateral optic nerve and "bow-tie" atrophy of the contralateral optic disk reflected infarction of the ipsilateral optic tract. The findings were due to an occlusion of the internal carotid artery proximal to the origin of the ophthalmic artery, resulting also in insufficiency in the area of supply of the anterior choroidal artery.

Palidez / Pallor

En pediatría es utilizado el término palidez para referirse al color blanquecino o blanco amarillento que por diferentes causas puede tomar la piel y las mucosas de un niño normalmente de aspecto sonrosado. Clasificación desde el punto de vista didáctico a la palidez en normal y anormal y dentro de la anormal incluye a la anémia y no anémia. Enfoca la conducta del médico ante un niño pálido

Increase of pallor and fluorescein-filling defects of the optic disc in the follow-up of ocular hypertensives measured by computerized image analysis.

In 24 ocular hypertensive patients, two optic disc fluorescein angiograms were obtained a mean of 3.9 years apart. Using computerized image analysis, we measured the area of pallor and the fluorescein-filling defect area within the disc and the fluorescein circulation parameters representing the filling rates of optic disc, choroid, and retinal vessels. The results indicated that increase in pallor and fluorescein-filling defect areas, as well as a slowed filling rate of the retinal veins, correlated with glaucomatous progression.

The histologic basis of optic disk pallor in experimental optic atrophy.

We studied the clinical and microscopic appearances of the optic nerve head in squirrel monkeys with optic nerve degeneration produced by optic nerve transection at the orbital apex. The ophthalmoscopic development of optic disk pallor coincided with the loss of nerve fiber bundles and the rearrangement of the remaining disk astrocytes into dense parallel layers across the nerve head. No astrocytic mitoses were observed and the estimated volume of astrocytes increased only slightly from normal. Among the astrocytes in atrophic disks, many capillaries had patent lumens and ultrastructurally normal endothelial cells. Pallor of the optic disk seems to result from a decrease in the transmission of light into the cytoarchitecture of the atrophic nerve head, not from the absence of capillaries or from extensive astrocytic proliferation.