Alpha-Thalassemia Major Presenting in a Term Neonate without Hydrops

2005 ◽  
Vol 8 (6) ◽  
pp. 706-709 ◽  
Author(s):  
Sara E. Monaco ◽  
Mary Davis ◽  
Ay-chyn Huang ◽  
Govind Bhagat ◽  
Rebecca N. Baergen ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Differential Diagnosis ◽  
Clinical Picture ◽  
Blood Smear ◽  
Unusual Case ◽  
Thalassemia Major ◽  
Term Neonate ◽  
Severe Hypoxia ◽  
Alpha Thalassemia ◽  
Pathologic Features

We describe the clinical and pathologic features of an unusual case of alpha-thalassemia major in a patient who survived to term and lived for 9 days. The neonate was nonhydropic and the clinical picture was dominated by severe hypoxia with pulmonary hypertension. The diagnosis was not suspected until postnatal examination of the blood smear, which prompted the performance of hemoglobin electrophoresis and subsequent molecular confirmation. This case illustrates that alpha-thalassemia major should be in the differential diagnosis of hypoxic neonates even in the absence of hydrops.

An Unusual Case of Pulmonary Hemorrhage in a Term Neonate without Any Specific Risk Factor

2019 ◽  
Author(s):  
F. Prato ◽  
G. Genoni ◽  
R. Broglia Franchin ◽  
C. Vivenza ◽  
B. Loperfido ◽  
...  
Keyword(s):  
Risk Factor ◽  
Unusual Case ◽  
Pulmonary Hemorrhage ◽  
Term Neonate ◽  
Specific Risk Factor ◽  
Specific Risk

AN UNUSUAL CASE OF EXOPHTHALMOS WITH GENERAL CONNECTIVE TISSUE CHANGES

1960 ◽  
Vol XXXIII (IV) ◽  
pp. 613-622 ◽  
Author(s):  
B.-A. Lamberg ◽  
O. Wegelius ◽  
B. Kuhlbäck ◽  
C. Olin-Lamberg
Keyword(s):  
Renal Failure ◽  
Connective Tissue ◽  
Beneficial Effect ◽  
Muscle Tissue ◽  
Clinical Picture ◽  
Unusual Case ◽  
Systemic Treatment ◽  
Nasal Epithelium ◽  
Tissue Changes ◽  
Histochemical Examination

ABSTRACT A case is described of a man of 48, who presented a history and clinical picture of a solitary thyro-hypophysial syndrome with malignant exophthalmos but in which general connective tissue changes were found on histological and histochemical examination of the retrobulbar connective tissue and muscles, of the pretibial connective and muscle tissue and the nasal epithelium. The intraocular tension was increased. In addition, renal failure developed. The use of cortisol locally in the eyes had a beneficial effect on the eye syndrome. Systemic treatment with corticotrophin and prednisolone had an evident beneficial effect on the renal condition.

DIAGNOSTICS AND TREATMENT OF POISONING WITH THALLIUM

2018 ◽  
pp. 9-15 ◽  
Author(s):  
L. B. Zavaliy ◽  
A. Yu. Simonova ◽  
M. M. Potskhveriya ◽  
Yu. N. Ostapenko ◽  
M. G. Gadzhieva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Picture ◽  
Clinical Guidelines ◽  
The Body ◽  
Biological Media ◽  
Pathophysiological Mechanisms ◽  
Thallium Poisoning ◽  
The World

Cases of thallium poisonings are regularly reported in media. In the present work, the world experience in diagnostics and treatment of victims with thallium poisoning has been compiled and summarized, search for clinical guidelines for the diagnostics, treatment and rehabilitation of patients has been carried out. The toxicokinetics and toxicodynamics, as well as pathophysiological mechanisms of thallium influence on the body are described in detail. Toxic and lethal concentrations of poison in biological media, as well as its tropicity to various tissues and body systems were determined. The clinical picture depending on the timing of poisoning and the dose of poison is described in detail. Difficulties of the differential diagnosis are defined. The most interesting cases of criminal and household poisonings with various terms of establishment of the diagnosis, doses of poisoning and outcomes are presented.

Congenital optic disc coloboma

2021 ◽  
pp. 33-39
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Clinical Picture ◽  
Clinical Case ◽  
Charge Syndrome ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Optic Nerve Atrophy ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

Anemia: Production Defects Generally Associated with Marrow Aplasia or Replacement

2017 ◽  
Author(s):  
Nancy Berliner ◽  
John M Gansner
Keyword(s):  
Bone Marrow ◽  
Differential Diagnosis ◽  
Aplastic Anemia ◽  
Blood Smear ◽  
Pure Red Cell Aplasia ◽  
Red Cell ◽  
Normal Bone Marrow ◽  
Normal Bone ◽  
Red Cell Aplasia

This review focuses on anemia resulting from production defects generally associated with marrow aplasia or replacement. The definition, epidemiology, etiology, pathogenesis, diagnosis, differential diagnosis, management, complications, and prognosis of the following production defects are discussed: Acquired aplastic anemia and acquired pure red cell aplasia. Figures depict a leukoerythroblastic blood smear, a biopsy comparing normal bone marrow and bone marrow showing almost complete aplasia, and a marrow smear. A table lists the causes of aplastic anemia. This review contains 3 figures; 1 table; 108 references.

Cardiomyopathies in the clinical picture of emergency cardiology

1998 ◽  
Vol 79 (1) ◽  
pp. 23-27
Author(s):  
I. A. Latfullin ◽  
O. V. Bogoyavlenskaya
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Transesophageal Echocardiography ◽  
Clinical Picture

The peculiarities of the clinical picture and diagnosis of uncoronarogenic lesions of the myocardium in a period of 5 years are studied. The differential diagnosis of cardiomyopathies and myocardial dystrophies is performed, emphasizing the informativity of contrast and transesophageal echocardiography. Registration of electrocardiographic and echocardiographic data allows to choose among patients the persons demanding the expanding cardiologic examination that provides early diagnosis of latent forms of cardiomyopathies.

scholarly journals Subglottic acute lymphoblastic leukaemia

2018 ◽  
Vol 11 (1) ◽  
pp. e226364
Author(s):  
Shilpa Ojha ◽  
Julian Gaskin ◽  
Michael Saunders
Keyword(s):  
Differential Diagnosis ◽  
Paediatric Patient ◽  
Acute Lymphoblastic Leukaemia ◽  
Airway Obstruction ◽  
Lymphoblastic Leukaemia ◽  
Unusual Case ◽  
Acute Airway Obstruction ◽  
History Of ◽  
Low Threshold

Acute lymphoblastic leukaemia (ALL) is one of the the most common malignancies of childhood and can occasionally present as acute airway obstruction. We present the unusual case of a 1-year-old boy who was referred to our Paediatric Otolaryngology (ENT) clinic with a recurrent history of croup. This is the first reported case of localised ALL presenting as a subglottic mass in a paediatric patient. It highlights the need to have a broader differential diagnosis in children presenting with ‘recurrent croup’ including extramedullary presentation of leukaemia and to have a low threshold for performing endoscopy in such cases.

The Symptoms of Depression in Endocrine Disorders

CNS Spectrums ◽  
1999 ◽  
Vol 4 (4) ◽  
pp. 51-61 ◽  
Author(s):  
Burton Hutto
Keyword(s):  
Differential Diagnosis ◽  
Clinical Picture ◽  
Depressive Disorders ◽  
Depressive Illness ◽  
Endocrine Disorders ◽  
Endocrine Disorder ◽  
Presenting Symptoms ◽  
Symptoms Of Depression

AbstractMany endocrine disorders present with symptoms of depression, thus differentiating primary depressive disorders from such endocrine conditions can be challenging. Awareness of the typical clinical picture of endocrine disorders is of primary importance. This article discusses a variety of common and uncommon endocrine disorders and the symptomatology that might suggest a depressive illness, and reviews literature on how endocrinopathies can mimic depression. Emphasis is also placed on the role that stress can play in the pathogenesis of endocrine disorders. Psychiatrists should be familiar with the range of presenting symptoms for endocrine disorders, and they should not rely on the presence or absence of stressors to guide their differential diagnosis between depression and endocrine disorder.

scholarly journals Cervicogenic headache: Josey's cases revisited

1997 ◽  
Vol 55 (4) ◽  
pp. 841-848 ◽  
Author(s):  
Maurice Vincent ◽  
Renato A. Luna
Keyword(s):  
Differential Diagnosis ◽  
Diagnostic Criteria ◽  
Clinical Picture ◽  
High Frequency ◽  
Female Gender ◽  
Cervicogenic Headache ◽  
Common Disorder ◽  
Recommended Treatment ◽  
Previous Trauma

Before Sjaastad coined the term cervicogenic headache (CH) 15 years ago, neck-related headaches have been considered by different authors for many years. Even after the publication of diagnostic criteria, dispute on the clinical picture, differential diagnosis, pathophysiology and treatment of CH still persists. A paper published in 1949 by Josey reports on 6 "illustrative" cases of cervical-related headaches. Indeed, looked from a more recent perspective, those cases could eventually correspond to CH. Important topics such as the relatively high frequency, fixed unilaterality of the pain, relation to previous trauma, irradiation from the back to the forehead, normal or slightly abnormal roentgenograms, and the mechanical precipitation of attacks are some of the topics considered by Josey. The female gender was not prevalent in Josey's series. Traction and analgesics were basically the recommended treatment. CH is probably a common disorder, an idea already considered by a clinician in 1949. This syndrome was not adequately described before Sjaastad's group papers in the 80's.

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