Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee

Case Reports in Hematology ◽

10.1155/2020/2837573 ◽

2020 ◽

Vol 2020 ◽

pp. 1-3

Author(s):

Heidi A. Worth ◽

Zachary Marlette ◽

David Aljadir ◽

Ronald Lands

Keyword(s):

Iron Deficiency ◽

Iron Overload ◽

Cataract Surgery ◽

Medical History ◽

No Reduction ◽

Clinical Course ◽

Genetic Disorder ◽

Past Medical History ◽

Invasive Evaluation ◽

Hfe Mutation

Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin. On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age. Furthermore, one of his daughters required cataract surgery as a teenager. With this information, we strongly suspected HHCS. His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.

Download Full-text

Early and complete vitrectomy versus tap and inject in acute post cataract surgery endophthalmitis presenting with hand motion vision; a quasi-experimental study

BMC Ophthalmology ◽

10.1186/s12886-022-02247-8 ◽

2022 ◽

Vol 22 (1) ◽

Author(s):

Seyed Ali Tabatabaei ◽

Soran Aminzade ◽

Aliasghar Ahmadraji ◽

Mohammad Soleimani ◽

Bahram Bohrani Sefidan ◽

...

Keyword(s):

Diabetes Mellitus ◽

Cataract Surgery ◽

Medical History ◽

Demographic Data ◽

Diabetic Patients ◽

Past Medical History ◽

Motion Vision ◽

Initial Management ◽

Significant Difference ◽

History Of

Abstract Background Based on endophthalmitis vitrectomy study, intravitreal injection of antibiotics is preferred for initial management of cases of acute post cataract surgery endophthalmitis (APCE) with presenting vision of hand motions (HM). This study aimed to compare outcomes of early and complete vitrectomy (VIT) and vitreous tap and antibiotic injection (T&I) in cases of APCE presented with vision of HM. Methods In this prospective study, cases of APCE with vision of HM between 2018 and 2020 were enrolled. According to the time of presentation, the patients were arranged into two groups (VIT vs. T&I). Demographic data, elapsed time to developing endophthalmitis, past medical history, microbiology results, complications, and final visual acuity were recorded and analyzed. Results Seventy-six eyes of 76 patients were enrolled. Fifty-three eyes underwent T&I and twenty-three were arranged into the VIT group. Past medical history of 34.2% of patients was significant for diabetes mellitus. There was a statistically significant lower logMAR in VIT group compared to T&I group (diff = 0.14, 95% CI: 0.04 to 0.24, P-value = 0.007). The comparison of the diabetic and non-diabetic patients in both groups showed that the visual outcome was better in non-diabetic cases compared to the diabetic subjects. There was no statistically significant difference between the diabetic and non-diabetic groups regarding the superiority of procedure. Conclusion Based on our results, we could recommend that it’s maybe better to do early and complete vitrectomy as the initial management of APCE with the vision of HM. Past medical history of diabetes mellitus is not a determining factor for choosing initial management between vitrectomy and antibiotic injection.

Download Full-text

Ultrasonic Evaluation of "Silent Regions" in the Thyroid Scintiscan

Nuklearmedizin ◽

10.1055/s-0037-1620666 ◽

1978 ◽

Vol 17 (01) ◽

pp. 16-23 ◽

Cited By ~ 2

Author(s):

Ch. L. Zollikofer ◽

J. Wewerka ◽

Th. Frank

Keyword(s):

Needle Biopsy ◽

Clinical Course ◽

Stimulation Test ◽

Evaluation Procedure ◽

Sonographic Diagnosis ◽

Non Invasive ◽

Evaluation Procedures ◽

Ultrasonic Evaluation ◽

Invasive Evaluation ◽

Autonomous Adenoma

35 patients with scintigraphically silent thyroid regions without palpable cold nodules were further evaluated by ultrasonography. In 33 cases the sonographic diagnosis was confirmed by other examinations or the clinical course. 2 cases were misinterpreted right at the beginning of our series.The use of ultrasonography in evaluating silent thyroid regions in the totally decompensated autonomous adenoma, in unilateral thyroid aplasia, thyroiditis and hyperthyroidism is shown to be a reliable and valuable supplement to the clinical and radioisotopic evaluation procedures. When differentiating the totally decompensated autonomous adenoma from unilateral thyroid aplasia a stimulation test need not be performed in most cases. Suspected thyroiditis can be confirmed in a simple way. Being a non-invasive evaluation procedure, ultrasonography should be used before performing a needle biopsy.

Download Full-text

Clinching the diagnosis: 1. iron deficiency and iron overload: serum ferritin and serum iron in clinical medicine

Pathology ◽

10.3109/00313028309085180 ◽

1983 ◽

Vol 15 (4) ◽

pp. 497-503 ◽

Cited By ~ 6

Author(s):

Richard J. Kimber ◽

Z. Rudzki ◽

R.W. Blunden

Keyword(s):

Iron Deficiency ◽

Iron Overload ◽

Serum Ferritin ◽

Serum Iron ◽

Clinical Medicine

Download Full-text

Erythropoietin hyporesponsiveness: From iron deficiency to iron overload

Kidney International ◽

10.1046/j.1523-1755.1999.055suppl.69107.x ◽

1999 ◽

Vol 55 (Suppl. 69) ◽

pp. 107-118 ◽

Cited By ~ 26

Author(s):

DER-CHERNG TARNG ◽

TUNG-PO HUANG ◽

TZEN WEN CHEN ◽

WU-CHANG YANG

Keyword(s):

Iron Deficiency ◽

Iron Overload

Download Full-text

Vestibular neuritis caused by severe acute respiratory syndrome coronavirus 2 infection diagnosed by serology: Case report

SAGE Open Medical Case Reports ◽

10.1177/2050313x211013261 ◽

2021 ◽

Vol 9 ◽

pp. 2050313X2110132

Author(s):

Alexandra Halalau ◽

Madalina Halalau ◽

Christopher Carpenter ◽

Amr E Abbas ◽

Matthew Sims

Keyword(s):

Case Report ◽

Severe Acute Respiratory Syndrome ◽

Medical History ◽

Cranial Nerve ◽

Respiratory Illness ◽

Vestibular Neuritis ◽

Past Medical History ◽

Significant Past Medical History ◽

Eighth Cranial Nerve ◽

Male Physician

Vestibular neuritis is a disorder selectively affecting the vestibular portion of the eighth cranial nerve generally considered to be inflammatory in nature. There have been no reports of severe acute respiratory syndrome coronavirus 2 causing vestibular neuritis. We present the case of a 42-year-old Caucasian male physician, providing care to COVID-19 patients, with no significant past medical history, who developed acute vestibular neuritis, 2 weeks following a mild respiratory illness, later diagnosed as COVID-19. Physicians should keep severe acute respiratory syndrome coronavirus 2 high on the list as a possible etiology when suspecting vestibular neuritis, given the extent and implications of the current pandemic and the high contagiousness potential.

Download Full-text

Past medical history of tumors other than meningioma is a negative prognostic factor for tumor recurrence in meningiomas WHO grade I

Acta Neurochirurgica ◽

10.1007/s00701-021-04780-9 ◽

2021 ◽

Author(s):

Annamaria Biczok ◽

Philipp Karschnia ◽

Raffaela Vitalini ◽

Markus Lenski ◽

Tobias Greve ◽

...

Keyword(s):

Medical History ◽

Tumor Recurrence ◽

Clinical History ◽

Study Endpoint ◽

Past Medical History ◽

Who Grade ◽

Increased Risk ◽

History Of ◽

Meningioma Recurrence ◽

The Impact

Abstract Background Prognostic markers for meningioma recurrence are needed to guide patient management. Apart from rare hereditary syndromes, the impact of a previous unrelated tumor disease on meningioma recurrence has not been described before. Methods We retrospectively searched our database for patients with meningioma WHO grade I and complete resection provided between 2002 and 2016. Demographical, clinical, pathological, and outcome data were recorded. The following covariates were included in the statistical model: age, sex, clinical history of unrelated tumor disease, and localization (skull base vs. convexity). Particular interest was paid to the patients’ past medical history. The study endpoint was date of tumor recurrence on imaging. Prognostic factors were obtained from multivariate proportional hazards models. Results Out of 976 meningioma patients diagnosed with a meningioma WHO grade I, 416 patients fulfilled our inclusion criteria. We encountered 305 women and 111 men with a median age of 57 years (range: 21–89 years). Forty-six patients suffered from a tumor other than meningioma, and no TERT mutation was detected in these patients. There were no differences between patients with and without a positive oncological history in terms of age, tumor localization, or mitotic cell count. Clinical history of prior tumors other than meningioma showed the strongest association with meningioma recurrence (p = 0.004, HR = 3.113, CI = 1.431–6.771) both on uni- and multivariate analysis. Conclusion Past medical history of tumors other than meningioma might be associated with an increased risk of meningioma recurrence. A detailed pre-surgical history might help to identify patients at risk for early recurrence.

Download Full-text

Sudden onset bilateral lower limb weakness in a female patient with no significant past medical history: answer

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2015.10.014 ◽

2016 ◽

Vol 27 ◽

pp. 180 ◽

Cited By ~ 1

Author(s):

H. Asadi ◽

P. Brennan ◽

A. O’Hare ◽

J. Thornton ◽

S. Looby

Keyword(s):

Medical History ◽

Female Patient ◽

Lower Limb ◽

Sudden Onset ◽

Past Medical History ◽

Significant Past Medical History ◽

Limb Weakness ◽

Lower Limb Weakness ◽

Bilateral Lower Limb

Download Full-text

Abstract 1122‐000214: Clinical Factors Associated rTPA Administration in Acute Ischemic Stroke Patients with History of Atrial Fibrillation

Stroke: Vascular and Interventional Neurology ◽

10.1161/svin.01.suppl_1.000214 ◽

2021 ◽

Vol 1 (S1) ◽

Author(s):

Chase A Rathfoot ◽

Camron Edressi ◽

Carolyn B Sanders ◽

Krista Knisely ◽

Nicolas Poupore ◽

...

Keyword(s):

Atrial Fibrillation ◽

Ischemic Stroke ◽

Acute Ischemic Stroke ◽

Medical History ◽

Clinical Decision Making ◽

Past Medical History ◽

Clinical Factors ◽

Stroke Patients ◽

Factors Associated ◽

History Of

Introduction : Previous research into the administration of rTPA therapy in acute ischemic stroke patients has largely focused on the general population, however the comorbid clinical factors held by stroke patients are important factors in clinical decision making. One such comorbid condition is Atrial Fibrillation. The purpose of this study is to determine the clinical factors associated with the administration of rtPA in Acute Ischemic Stroke (AIS) patients specifically with a past medical history of Atrial Fibrillation (AFib). Methods : The data for this analysis was collected at a regional stroke center from January 2010 to June 2016 in Greenville, SC. It was then analyzed retrospectively using a multivariate logistic regression to identify factors significantly associated with the inclusion or exclusion receiving rtPA therapy in the AIS/AFib patient population. This inclusion or exclusion is presented as an Odds Ratio and all data was analyzed using IBM SPSS. Results : A total of 158 patients with Atrial Fibrillation who had Acute Ischemic Strokes were identified. For the 158 patients, the clinical factors associated with receiving rtPA therapy were a Previous TIA event (OR = 12.155, 95% CI, 1.125‐131.294, P < 0.040), the administration of Antihypertensive medication before admission (OR = 7.157, 95% CI, 1.071‐47.837, P < 0.042), the administration of Diabetic medication before admission (OR = 13.058, 95% CI, 2.004‐85.105, P < 0.007), and serum LDL level (OR = 1.023, 95% CI, 1.004‐1.042, P < 0.16). Factors associated with not receiving rtPA therapy included a past medical history of Depression (OR = 0.012, 95% CI, 0.000‐0.401, P < 0.013) or Obesity (OR = 0.131, 95% CI, 0.034‐0.507, P < 0.003), Direct Admission to the Neurology Floor (OR = 0.179, 95% CI, 0.050‐0.639, P < 0.008), serum Lipid level (OR = 0.544, 95% CI, 0.381‐0.984, P < 0.044), and Diastolic Blood Pressure (OR = 0.896, 95% CI, 0.848‐0.946, P < 0.001). Conclusions : The results of this study demonstrate that there are significant associations between several clinical risk factors, patient lab values, and hospital admission factors in the administration of rTPA therapy to AIS patients with a past medical history of Atrial Fibrillation. Further research is recommended to determine the extent and reasoning behind of these associations as well as their impact on the clinical course for AIS/AFib patients.

Download Full-text

Iron Homeostasis and Disorders in Dogs and Cats: A Review

Journal of the American Animal Hospital Association ◽

10.5326/jaaha-ms-5553 ◽

2011 ◽

Vol 47 (3) ◽

pp. 151-160 ◽

Cited By ~ 27

Author(s):

Jennifer L. McCown ◽

Andrew J. Specht

Keyword(s):

Iron Deficiency ◽

Iron Overload ◽

Iron Homeostasis ◽

Diagnostic Testing ◽

Clinical Manifestations ◽

Essential Element ◽

The Body ◽

Deficiency Anemia ◽

Enzyme Systems ◽

Living Organisms

Iron is an essential element for nearly all living organisms and disruption of iron homeostasis can lead to a number of clinical manifestations. Iron is used in the formation of both hemoglobin and myoglobin, as well as numerous enzyme systems of the body. Disorders of iron in the body include iron deficiency anemia, anemia of inflammatory disease, and iron overload. This article reviews normal iron metabolism, disease syndromes of iron imbalance, diagnostic testing, and treatment of either iron deficiency or excess. Recent advances in diagnosing iron deficiency using reticulocyte indices are reviewed.

Download Full-text